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NM_001849.4(COL6A2):c.84G>A (p.Pro28=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 4, 2016
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:
RCV000387663.3

Allele description [Variation Report for NM_001849.4(COL6A2):c.84G>A (p.Pro28=)]

NM_001849.4(COL6A2):c.84G>A (p.Pro28=)

Gene:
COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
HGVS:
  • NC_000021.9:g.46111560G>A
  • NG_008675.1:g.18442G>A
  • NM_001849.4:c.84G>AMANE SELECT
  • NM_058174.3:c.84G>A
  • NM_058175.3:c.84G>A
  • NP_001840.3:p.Pro28=
  • NP_001840.3:p.Pro28=
  • NP_478054.2:p.Pro28=
  • NP_478055.2:p.Pro28=
  • LRG_476t1:c.84G>A
  • LRG_476:g.18442G>A
  • LRG_476p1:p.Pro28=
  • NC_000021.8:g.47531474G>A
  • NM_001849.3:c.84G>A
Links:
dbSNP: rs140890046
NCBI 1000 Genomes Browser:
rs140890046
Molecular consequence:
  • NM_001849.4:c.84G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_058174.3:c.84G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_058175.3:c.84G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000533111GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Nov 4, 2016) 		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, SCV000533111.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024