NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys) AND Cataract 17 multiple types

Germline classification:: Benign (2 submissions)
Last evaluated:: Oct 24, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000526314.13

Allele description [Variation Report for NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys)]

NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys)

Genes:

CRYBA4:crystallin beta A4 [Gene - OMIM - HGNC]
CRYBB1:crystallin beta B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys)

HGVS:

NC_000022.11:g.26607993G>A
NG_009826.1:g.15035C>T
NM_001887.4:c.328C>TMANE SELECT
NP_001878.1:p.Arg110Cys
LRG_1271t1:c.328C>T
LRG_1271:g.15035C>T
LRG_1271p1:p.Arg110Cys
NC_000022.10:g.27003957G>A
NM_001887.3:c.328C>T

Protein change:

R110C

Links:

dbSNP: rs147206089

NCBI 1000 Genomes Browser:

rs147206089

Molecular consequence:

NM_001887.4:c.328C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cataract 17 multiple types
Synonyms:: Cataract, congenital nuclear, autosomal recessive 3; CATARACT 17, PULVERULENT; CATARACT 17, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0012688; MedGen: C3888124; Orphanet: 91492; OMIM: 611544

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000645718	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Oct 24, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001308731	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000645718

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Oct 24, 2023)

germline

clinical testing

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

SCV001308731

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.

Sturgill GM, Bala E, Yaniglos SS, Peachey NS, Hagstrom SA.

Ophthalmic Genet. 2010 Sep;31(3):129-34. doi: 10.3109/13816810.2010.486774.

PubMed [citation]

PMID:: 20565250

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000645718.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV001308731.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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