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NM_020178.5(CA10):c.269G>A (p.Gly90Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 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:
RCV004431975.1

Allele description [Variation Report for NM_020178.5(CA10):c.269G>A (p.Gly90Glu)]

NM_020178.5(CA10):c.269G>A (p.Gly90Glu)

Gene:
CA10:carbonic anhydrase 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_020178.5(CA10):c.269G>A (p.Gly90Glu)
HGVS:
  • NC_000017.11:g.51931000C>T
  • NM_001082533.1:c.269G>A
  • NM_001082534.2:c.269G>A
  • NM_020178.5:c.269G>AMANE SELECT
  • NP_001076002.1:p.Gly90Glu
  • NP_001076003.1:p.Gly90Glu
  • NP_064563.1:p.Gly90Glu
  • NC_000017.10:g.50008360C>T
Protein change:
G90E
Molecular consequence:
  • NM_001082533.1:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001082534.2:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020178.5:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004916493Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 22, 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, SCV004916493.1

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

Description

The c.269G>A (p.G90E) alteration is located in exon 4 (coding exon 3) of the CA10 gene. This alteration results from a G to A substitution at nucleotide position 269, causing the glycine (G) at amino acid position 90 to be replaced by a glutamic acid (E). 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: May 7, 2024