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NM_001371242.2(CRYBG1):c.4710T>G (p.His1570Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2022
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:
RCV004370086.1

Allele description [Variation Report for NM_001371242.2(CRYBG1):c.4710T>G (p.His1570Gln)]

NM_001371242.2(CRYBG1):c.4710T>G (p.His1570Gln)

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.4710T>G (p.His1570Gln)
HGVS:
  • NC_000006.12:g.106530307T>G
  • NM_001371242.2:c.4710T>GMANE SELECT
  • NM_001624.4:c.3486T>G
  • NP_001358171.1:p.His1570Gln
  • NP_001615.2:p.His1162Gln
  • NC_000006.11:g.106978182T>G
  • NM_001624.2:c.3486T>G
Protein change:
H1162Q
Molecular consequence:
  • NM_001371242.2:c.4710T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001624.4:c.3486T>G - 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
SCV004850038Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 27, 2022) 		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, SCV004850038.1

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

Description

The c.3486T>G (p.H1162Q) alteration is located in exon 6 (coding exon 6) of the AIM1 gene. This alteration results from a T to G substitution at nucleotide position 3486, causing the histidine (H) at amino acid position 1162 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: May 7, 2024