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NM_019594.4(LRRC8A):c.211G>A (p.Gly71Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2024
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:
RCV004636654.1

Allele description [Variation Report for NM_019594.4(LRRC8A):c.211G>A (p.Gly71Ser)]

NM_019594.4(LRRC8A):c.211G>A (p.Gly71Ser)

Gene:
LRRC8A:leucine rich repeat containing 8 VRAC subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_019594.4(LRRC8A):c.211G>A (p.Gly71Ser)
HGVS:
  • NC_000009.12:g.128907375G>A
  • NG_009630.1:g.30264G>A
  • NM_001127244.1:c.211G>A
  • NM_001127244.2:c.211G>A
  • NM_001127245.2:c.211G>A
  • NM_019594.4:c.211G>AMANE SELECT
  • NP_001120716.1:p.Gly71Ser
  • NP_001120717.1:p.Gly71Ser
  • NP_062540.2:p.Gly71Ser
  • NP_062540.2:p.Gly71Ser
  • LRG_80t1:c.211G>A
  • LRG_80:g.30264G>A
  • LRG_80p1:p.Gly71Ser
  • NC_000009.11:g.131669654G>A
  • NM_019594.3:c.211G>A
Protein change:
G71S
Molecular consequence:
  • NM_001127244.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127245.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019594.4:c.211G>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
SCV005135649Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 12, 2024) 		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, SCV005135649.1

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

Description

The c.211G>A (p.G71S) alteration is located in exon 3 (coding exon 1) of the LRRC8A gene. This alteration results from a G to A substitution at nucleotide position 211, causing the glycine (G) at amino acid position 71 to be replaced by a serine (S). 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: Sep 29, 2024