NM_001371242.2(CRYBG1):c.2847T>G (p.Cys949Trp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 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:: RCV004370054.1

Allele description [Variation Report for NM_001371242.2(CRYBG1):c.2847T>G (p.Cys949Trp)]

NM_001371242.2(CRYBG1):c.2847T>G (p.Cys949Trp)

Genes:

LOC126859757:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:106967140-106968339 [Gene]
CRYBG1:crystallin beta-gamma domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_001371242.2(CRYBG1):c.2847T>G (p.Cys949Trp)

HGVS:

NC_000006.12:g.106520055T>G
NG_084258.1:g.891T>G
NM_001371242.2:c.2847T>GMANE SELECT
NM_001624.4:c.1623T>G
NP_001358171.1:p.Cys949Trp
NP_001615.2:p.Cys541Trp
NC_000006.11:g.106967930T>G
NM_001624.2:c.1623T>G

Protein change:

C541W

Molecular consequence:

NM_001371242.2:c.2847T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001624.4:c.1623T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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MCM3 [Xenopus laevis]
MCM3 [Xenopus laevis]
gi|829621|gb|AAA80227.1|

Protein
PREDICTED: Rattus norvegicus serine protease 21 (Prss21), transcript variant X4,...
PREDICTED: Rattus norvegicus serine protease 21 (Prss21), transcript variant X4, misc_RNA
gi|2678879667|ref|XR_005489876.2|

Nucleotide
oxygen-dependent coproporphyrinogen oxidase, partial [Enterobacteriaceae bacteri...
oxygen-dependent coproporphyrinogen oxidase, partial [Enterobacteriaceae bacterium ML5]
gi|1620895129|gb|THD56531.1||gnl|WG U|ERD95_01385

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004850006	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 22, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004850006

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 22, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004850006.1

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

Description

The c.1623T>G (p.C541W) alteration is located in exon 2 (coding exon 2) of the AIM1 gene. This alteration results from a T to G substitution at nucleotide position 1623, causing the cysteine (C) at amino acid position 541 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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