NM_001887.4(CRYBB1):c.171del (p.Asn58fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 3, 2018
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:: RCV000486232.2

Allele description [Variation Report for NM_001887.4(CRYBB1):c.171del (p.Asn58fs)]

NM_001887.4(CRYBB1):c.171del (p.Asn58fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_001887.4(CRYBB1):c.171del (p.Asn58fs)

HGVS:

NC_000022.11:g.26616151del
NG_009826.1:g.6879del
NM_001887.4:c.171delMANE SELECT
NP_001878.1:p.Asn58fs
LRG_1271t1:c.171del
LRG_1271:g.6879del
LRG_1271p1:p.Asn58fs
NC_000022.10:g.27012115del
NM_001887.3:c.171del
NM_001887.3:c.171delG
NM_001887.4:c.171delGMANE SELECT

Protein change:

N58fs

Links:

OMIM: 600929.0002; dbSNP: rs1064793935

NCBI 1000 Genomes Browser:

rs1064793935

Molecular consequence:

NM_001887.4:c.171del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567398	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 3, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567398

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 3, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567398.4

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

Description

The c.171delG deletion in the CRYBB1 gene has been reported previously (including reported as delG168due to alternative nomenclature) in association with congenital cataracts (Cohen et al., 2007; Aldahmesh etal., 2012). The c.171delG deletion causes a frameshift starting with codon asparagine 58, changes thisamino acid to a threonine residue, and creates a premature Stop codon at position 107 of the new readingframe, denoted p.N58TfsX107. This variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. The c.171delG deletion was not observedin approximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common variant in these populations. We interpret c.171delG as a pathogenic variant.

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

Last Updated: Aug 4, 2024

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