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NM_000394.4(CRYAA):c.440del (p.Gln147fs) AND Cataract 9 multiple types

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 19, 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:
RCV001857842.5

Allele description [Variation Report for NM_000394.4(CRYAA):c.440del (p.Gln147fs)]

NM_000394.4(CRYAA):c.440del (p.Gln147fs)

Gene:
CRYAA:crystallin alpha A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000394.4(CRYAA):c.440del (p.Gln147fs)
HGVS:
  • NC_000021.9:g.43172198del
  • NG_009823.1:g.8168del
  • NM_000394.4:c.440delMANE SELECT
  • NM_001363766.1:c.329del
  • NP_000385.1:p.Gln147fs
  • NP_001350695.1:p.Gln110fs
  • NC_000021.8:g.44592308del
  • NM_000394.3:c.440del
Protein change:
Q110fs
Links:
dbSNP: rs1114167311
NCBI 1000 Genomes Browser:
rs1114167311
Molecular consequence:
  • NM_000394.4:c.440del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363766.1:c.329del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cataract 9 multiple types
Synonyms:
Cataract 9, multiple types, with or without microcornea; Cataract, autosomal recessive congenital 1
Identifiers:
MONDO: MONDO:0011413; MedGen: C1858679; Orphanet: 1377; OMIM: 604219

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002287582Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely pathogenic
(Mar 19, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, Mackey DA, Staffieri SE, Elder JE, Taranath D, Straga T, Black J, Pater J, Casey T, Hewitt AW, Burdon KP.

G3 (Bethesda). 2017 Oct 5;7(10):3257-3268. doi: 10.1534/g3.117.300109.

PubMed [citation]
PMID:
28839118
PMCID:
PMC5633377

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 Invitae, SCV002287582.3

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

Description

This variant has been observed in individual(s) with congenital cataract (PMID: 28839118, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 252948). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the CRYAA gene (p.Gln147Argfs*48). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the CRYAA protein and extend the protein by 20 additional amino acid residues. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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

Last Updated: Mar 30, 2024