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NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 2021
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:
RCV002503574.1

Allele description [Variation Report for NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)]

NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)

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.319C>T (p.Arg107Cys)
HGVS:
  • NC_000011.10:g.111910332G>A
  • NG_009824.3:g.18391C>T
  • NG_033080.2:g.2597G>A
  • NM_001289807.1:c.319C>T
  • NM_001289808.2:c.319C>TMANE SELECT
  • NM_001330379.1:c.118C>T
  • NM_001368245.1:c.319C>T
  • NM_001368246.1:c.118C>T
  • NM_001885.3:c.319C>T
  • NP_001276736.1:p.Arg107Cys
  • NP_001276737.1:p.Arg107Cys
  • NP_001317308.1:p.Arg40Cys
  • NP_001355174.1:p.Arg107Cys
  • NP_001355175.1:p.Arg40Cys
  • NP_001876.1:p.Arg107Cys
  • LRG_407t1:c.319C>T
  • LRG_407t2:c.319C>T
  • LRG_407:g.18391C>T
  • LRG_407p1:p.Arg107Cys
  • LRG_407p2:p.Arg107Cys
  • NC_000011.9:g.111781056G>A
Protein change:
R107C
Links:
dbSNP: rs782520163
NCBI 1000 Genomes Browser:
rs782520163
Molecular consequence:
  • NM_001289807.1:c.319C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289808.2:c.319C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330379.1:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368245.1:c.319C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368246.1:c.118C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001885.3:c.319C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myofibrillar myopathy 2
Synonyms:
MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE; MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED; Alpha-B crystallinopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012130; MedGen: C1837317; Orphanet: 280553; OMIM: 608810
Name:
Cataract 16 multiple types
Synonyms:
CATARACT 16, POSTERIOR POLAR; CATARACT 16, CONGENITAL LAMELLAR; CATARACT, CONGENITAL LAMELLAR
Identifiers:
MONDO: MONDO:0013411; MedGen: C3808377; Orphanet: 91492; Orphanet: 98992; Orphanet: 98993; Orphanet: 98995; OMIM: 613763
Name:
Fatal infantile hypertonic myofibrillar myopathy
Synonyms:
MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
Identifiers:
MONDO: MONDO:0013472; MedGen: C5190691; Orphanet: 280553; OMIM: 613869
Name:
Dilated cardiomyopathy 1II (CMD1II)
Identifiers:
MONDO: MONDO:0014073; MedGen: C3554649; Orphanet: 154; OMIM: 615184

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002788619Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 26, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002788619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024