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NM_001405607.1(PBRM1):c.1444-254C>G AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 19, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001679144.1

Allele description [Variation Report for NM_001405607.1(PBRM1):c.1444-254C>G]

NM_001405607.1(PBRM1):c.1444-254C>G

Gene:
PBRM1:polybromo 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_001405607.1(PBRM1):c.1444-254C>G
HGVS:
  • NC_000003.12:g.52627624G>C
  • NG_032108.1:g.63227C>G
  • NM_001350074.2:c.1507-254C>G
  • NM_001350075.2:c.1444-254C>G
  • NM_001350076.2:c.1507-254C>G
  • NM_001350077.2:c.1498-254C>G
  • NM_001350078.2:c.1507-254C>G
  • NM_001350079.2:c.1507-254C>G
  • NM_001366070.2:c.1507-254C>G
  • NM_001366071.2:c.1507-254C>G
  • NM_001366072.2:c.1507-254C>G
  • NM_001366073.2:c.1498-254C>G
  • NM_001366074.2:c.1495-254C>G
  • NM_001366075.2:c.1507-254C>G
  • NM_001366076.2:c.1402-254C>G
  • NM_001394867.1:c.1444-254C>G
  • NM_001394868.1:c.1444-254C>G
  • NM_001394869.1:c.1444-254C>G
  • NM_001394870.1:c.1498-254C>G
  • NM_001394871.1:c.1444-254C>G
  • NM_001394872.1:c.1444-254C>G
  • NM_001394873.1:c.1444-254C>G
  • NM_001394874.1:c.1444-254C>G
  • NM_001394875.1:c.1444-254C>G
  • NM_001394876.1:c.1444-254C>G
  • NM_001394877.1:c.1444-254C>G
  • NM_001394878.1:c.1408-254C>G
  • NM_001394879.1:c.1348-254C>G
  • NM_001400470.1:c.1444-254C>G
  • NM_001400471.1:c.1444-254C>G
  • NM_001400472.1:c.1465-254C>G
  • NM_001400473.1:c.1444-254C>G
  • NM_001400474.1:c.1444-254C>G
  • NM_001400475.1:c.1444-254C>G
  • NM_001400479.1:c.1444-254C>G
  • NM_001400481.1:c.1444-254C>G
  • NM_001400484.1:c.1444-254C>G
  • NM_001400487.1:c.1348-254C>G
  • NM_001400490.1:c.1444-254C>G
  • NM_001400496.1:c.1444-254C>G
  • NM_001400500.1:c.1444-254C>G
  • NM_001400501.1:c.1444-254C>G
  • NM_001400504.1:c.1444-254C>G
  • NM_001405552.1:c.1546-254C>G
  • NM_001405553.1:c.1507-254C>G
  • NM_001405554.1:c.1552-254C>G
  • NM_001405555.1:c.1444-254C>G
  • NM_001405556.1:c.1444-254C>G
  • NM_001405557.1:c.1444-254C>G
  • NM_001405558.1:c.1444-254C>G
  • NM_001405559.1:c.1444-254C>G
  • NM_001405560.1:c.1345-254C>G
  • NM_001405561.1:c.1444-254C>G
  • NM_001405563.1:c.1444-254C>G
  • NM_001405564.1:c.1471-254C>G
  • NM_001405565.1:c.1444-254C>G
  • NM_001405566.1:c.-539-254C>G
  • NM_001405567.1:c.1444-254C>G
  • NM_001405568.1:c.1471-254C>G
  • NM_001405569.1:c.1471-254C>G
  • NM_001405570.1:c.1444-254C>G
  • NM_001405571.1:c.1444-254C>G
  • NM_001405572.1:c.1348-254C>G
  • NM_001405573.1:c.1258-254C>G
  • NM_001405574.1:c.1498-254C>G
  • NM_001405575.1:c.1444-254C>G
  • NM_001405576.1:c.1444-254C>G
  • NM_001405577.1:c.1444-254C>G
  • NM_001405578.1:c.1444-254C>G
  • NM_001405579.1:c.1444-254C>G
  • NM_001405580.1:c.1471-254C>G
  • NM_001405581.1:c.1444-254C>G
  • NM_001405582.1:c.1348-254C>G
  • NM_001405583.1:c.1444-254C>G
  • NM_001405584.1:c.1444-254C>G
  • NM_001405585.1:c.1444-254C>G
  • NM_001405586.1:c.1471-254C>G
  • NM_001405587.1:c.1300-254C>G
  • NM_001405588.1:c.1444-254C>G
  • NM_001405589.1:c.1444-254C>G
  • NM_001405590.1:c.1444-254C>G
  • NM_001405591.1:c.1498-254C>G
  • NM_001405592.1:c.1444-254C>G
  • NM_001405593.1:c.1444-254C>G
  • NM_001405594.1:c.1444-254C>G
  • NM_001405595.1:c.1375-254C>G
  • NM_001405596.1:c.-539-254C>G
  • NM_001405597.1:c.1327-254C>G
  • NM_001405598.1:c.1471-254C>G
  • NM_001405599.1:c.1348-254C>G
  • NM_001405600.1:c.1498-254C>G
  • NM_001405601.1:c.1444-254C>G
  • NM_001405602.1:c.1348-254C>G
  • NM_001405603.1:c.1444-254C>G
  • NM_001405604.1:c.1348-254C>G
  • NM_001405605.1:c.1444-254C>G
  • NM_001405606.1:c.1348-254C>G
  • NM_001405607.1:c.1444-254C>GMANE SELECT
  • NM_001405608.1:c.307-254C>G
  • NM_001405609.1:c.1444-254C>G
  • NM_001405610.1:c.1444-254C>G
  • NM_001405611.1:c.1444-254C>G
  • NM_001405612.1:c.1444-254C>G
  • NM_001405622.1:c.1507-254C>G
  • NM_001405623.1:c.1444-254C>G
  • NM_001405624.1:c.1444-254C>G
  • NM_001405625.1:c.-139-254C>G
  • NM_001405626.1:c.1444-254C>G
  • NM_001405627.1:c.1444-254C>G
  • NM_001405628.1:c.1444-254C>G
  • NM_001405629.1:c.1444-254C>G
  • NM_001405630.1:c.1444-254C>G
  • NM_001405631.1:c.1444-254C>G
  • NM_001405632.1:c.1444-254C>G
  • NM_001405633.1:c.1444-254C>G
  • NM_001405634.1:c.1444-254C>G
  • NM_001405635.1:c.1444-254C>G
  • NM_001405636.1:c.1471-254C>G
  • NM_001405637.1:c.1462-254C>G
  • NM_001405638.1:c.1348-254C>G
  • NM_001405639.1:c.1444-254C>G
  • NM_001405640.1:c.1444-254C>G
  • NM_001405641.1:c.1444-254C>G
  • NM_001405642.1:c.1345-254C>G
  • NM_001405643.1:c.1444-254C>G
  • NM_018313.5:c.1444-254C>G
  • NM_181042.5:c.1444-254C>G
  • NC_000003.11:g.52661640G>C
Links:
dbSNP: rs35249778
NCBI 1000 Genomes Browser:
rs35249778
Molecular consequence:
  • NM_001350074.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350075.2:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350076.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350077.2:c.1498-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350078.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350079.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366070.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366071.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366072.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366073.2:c.1498-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366074.2:c.1495-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366075.2:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001366076.2:c.1402-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394867.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394868.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394869.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394870.1:c.1498-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394871.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394872.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394873.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394874.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394875.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394876.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394877.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394878.1:c.1408-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394879.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400470.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400471.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400472.1:c.1465-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400473.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400474.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400475.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400479.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400481.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400484.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400487.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400490.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400496.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400500.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400501.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001400504.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405552.1:c.1546-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405553.1:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405554.1:c.1552-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405555.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405556.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405557.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405558.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405559.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405560.1:c.1345-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405561.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405563.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405564.1:c.1471-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405565.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405566.1:c.-539-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405567.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405568.1:c.1471-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405569.1:c.1471-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405570.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405571.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405572.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405573.1:c.1258-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405574.1:c.1498-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405575.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405576.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405577.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405578.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405579.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405580.1:c.1471-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405581.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405582.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405583.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405584.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405585.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405586.1:c.1471-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405587.1:c.1300-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405588.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405589.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405590.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405591.1:c.1498-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405592.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405593.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405594.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405595.1:c.1375-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405596.1:c.-539-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405597.1:c.1327-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405598.1:c.1471-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405599.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405600.1:c.1498-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405601.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405602.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405603.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405604.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405605.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405606.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405607.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405608.1:c.307-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405609.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405610.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405611.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405612.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405622.1:c.1507-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405623.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405624.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405625.1:c.-139-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405626.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405627.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405628.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405629.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405630.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405631.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405632.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405633.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405634.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405635.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405636.1:c.1471-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405637.1:c.1462-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405638.1:c.1348-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405639.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405640.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405641.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405642.1:c.1345-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001405643.1:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018313.5:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181042.5:c.1444-254C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001902723GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Jun 19, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001902723.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023