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NM_001739.2(CA5A):c.514G>T (p.Val172Leu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 2, 2023
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:
RCV003170471.2

Allele description [Variation Report for NM_001739.2(CA5A):c.514G>T (p.Val172Leu)]

NM_001739.2(CA5A):c.514G>T (p.Val172Leu)

Gene:
CA5A:carbonic anhydrase 5A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_001739.2(CA5A):c.514G>T (p.Val172Leu)
HGVS:
  • NC_000016.10:g.87902466C>A
  • NG_033227.2:g.39064G>T
  • NM_001367225.1:c.514G>T
  • NM_001739.1:c.514G>T
  • NM_001739.2:c.514G>TMANE SELECT
  • NP_001354154.1:p.Val172Leu
  • NP_001730.1:p.Val172Leu
  • LRG_1280t1:c.514G>T
  • LRG_1280:g.39064G>T
  • LRG_1280p1:p.Val172Leu
  • NC_000016.9:g.87936072C>A
  • NR_159798.1:n.593G>T
  • NR_159799.1:n.474G>T
Protein change:
V172L
Links:
dbSNP: rs142182110
NCBI 1000 Genomes Browser:
rs142182110
Molecular consequence:
  • NM_001367225.1:c.514G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001739.2:c.514G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_159798.1:n.593G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_159799.1:n.474G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003883972Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 2, 2023) 		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, SCV003883972.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024