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NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV002543114.1

Allele description

NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu)

Gene:
CRYAB:crystallin alpha B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu)
HGVS:
  • NC_000011.10:g.111908859C>G
  • NG_009824.3:g.19864G>C
  • NG_033080.2:g.1124C>G
  • NM_001289807.1:c.433G>C
  • NM_001289808.2:c.433G>CMANE SELECT
  • NM_001330379.1:c.232G>C
  • NM_001368245.1:c.433G>C
  • NM_001368246.1:c.232G>C
  • NM_001885.1:c.433G>C
  • NM_001885.3:c.433G>C
  • NP_001276736.1:p.Val145Leu
  • NP_001276737.1:p.Val145Leu
  • NP_001317308.1:p.Val78Leu
  • NP_001355174.1:p.Val145Leu
  • NP_001355175.1:p.Val78Leu
  • NP_001876.1:p.Val145Leu
  • LRG_407t1:c.433G>C
  • LRG_407t2:c.433G>C
  • LRG_407:g.19864G>C
  • LRG_407p1:p.Val145Leu
  • LRG_407p2:p.Val145Leu
  • NC_000011.9:g.111779583C>G
  • NG_009824.2:g.19864G>C
  • NG_033080.1:g.1124C>G
Protein change:
V145L
Links:
dbSNP: rs781852612
NCBI 1000 Genomes Browser:
rs781852612
Molecular consequence:
  • NM_001289807.1:c.433G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289808.2:c.433G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330379.1:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368245.1:c.433G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368246.1:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001885.3:c.433G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV003668863Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Dec 15, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003668863.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.433G>C (p.V145L) alteration is located in exon 3 (coding exon 3) of the CRYAB gene. This alteration results from a G to C substitution at nucleotide position 433, causing the valine (V) at amino acid position 145 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024