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NM_000717.5(CA4):c.58G>T (p.Glu20Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 8, 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:
RCV003013751.3

Allele description [Variation Report for NM_000717.5(CA4):c.58G>T (p.Glu20Ter)]

NM_000717.5(CA4):c.58G>T (p.Glu20Ter)

Gene:
CA4:carbonic anhydrase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.1
Genomic location:
Preferred name:
NM_000717.5(CA4):c.58G>T (p.Glu20Ter)
HGVS:
  • NC_000017.11:g.60150092G>T
  • NG_012050.2:g.5152G>T
  • NM_000717.5:c.58G>TMANE SELECT
  • NP_000708.1:p.Glu20Ter
  • NC_000017.10:g.58227453G>T
  • NR_137422.2:n.120G>T
Protein change:
E20*
Molecular consequence:
  • NR_137422.2:n.120G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000717.5:c.58G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003313461Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 8, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies.

Liu X, Tao T, Zhao L, Li G, Yang L.

Clin Exp Ophthalmol. 2021 Jan;49(1):46-59. doi: 10.1111/ceo.13875. Epub 2020 Nov 2.

PubMed [citation]
PMID:
33090715

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003313461.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu20*) in the CA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CA4 are known to be pathogenic (PMID: 33090715).

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

Last Updated: Sep 29, 2024