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NM_001371242.2(CRYBG1):c.2063G>A (p.Arg688Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 2023
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:
RCV004255110.1

Allele description [Variation Report for NM_001371242.2(CRYBG1):c.2063G>A (p.Arg688Gln)]

NM_001371242.2(CRYBG1):c.2063G>A (p.Arg688Gln)

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.2063G>A (p.Arg688Gln)
HGVS:
  • NC_000006.12:g.106519271G>A
  • NG_084258.1:g.107G>A
  • NM_001371242.2:c.2063G>AMANE SELECT
  • NM_001624.4:c.839G>A
  • NP_001358171.1:p.Arg688Gln
  • NP_001615.2:p.Arg280Gln
  • NC_000006.11:g.106967146G>A
  • NM_001624.2:c.839G>A
Protein change:
R280Q
Molecular consequence:
  • NM_001371242.2:c.2063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001624.4:c.839G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003872789Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003872789.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.839G>A (p.R280Q) alteration is located in exon 2 (coding exon 2) of the AIM1 gene. This alteration results from a G to A substitution at nucleotide position 839, causing the arginine (R) at amino acid position 280 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024