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NM_001134771.2(SLC12A5):c.121+4G>C AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2022
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:
RCV004088612.1

Allele description [Variation Report for NM_001134771.2(SLC12A5):c.121+4G>C]

NM_001134771.2(SLC12A5):c.121+4G>C

Genes:
LOC130065980:ATAC-STARR-seq lymphoblastoid silent region 12971 [Gene]
SLC12A5-AS1:SLC12A5 and MMP9 antisense RNA 1 [Gene - HGNC]
SLC12A5:solute carrier family 12 member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_001134771.2(SLC12A5):c.121+4G>C
HGVS:
  • NC_000020.11:g.46021890G>C
  • NG_046341.1:g.5201G>C
  • NG_046341.2:g.5206G>C
  • NG_200397.1:g.227G>C
  • NM_001134771.2:c.121+4G>C
  • NC_000020.10:g.44650529G>C
  • NM_001134771.1:c.121+4G>C
  • NR_147699.1:n.184C>G
Molecular consequence:
  • NM_001134771.2:c.121+4G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NR_147699.1:n.184C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003546476Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003546476.2

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

Description

The c.121+4G>C intronic alteration consists of a G to C substitution 4 nucleotides after exon 1 of the SLC12A5 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024