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NM_000692.5(ALDH1B1):c.1216G>A (p.Val406Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV004301258.1

Allele description [Variation Report for NM_000692.5(ALDH1B1):c.1216G>A (p.Val406Met)]

NM_000692.5(ALDH1B1):c.1216G>A (p.Val406Met)

Gene:
ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.1
Genomic location:
Preferred name:
NM_000692.5(ALDH1B1):c.1216G>A (p.Val406Met)
HGVS:
  • NC_000009.12:g.38396964G>A
  • NG_012253.1:g.9260G>A
  • NM_000692.5:c.1216G>AMANE SELECT
  • NP_000683.3:p.Val406Met
  • NC_000009.11:g.38396961G>A
  • NM_000692.4:c.1216G>A
Protein change:
V406M
Molecular consequence:
  • NM_000692.5:c.1216G>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
SCV003966409Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 24, 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, SCV003966409.2

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

Description

The c.1216G>A (p.V406M) alteration is located in exon 2 (coding exon 1) of the ALDH1B1 gene. This alteration results from a G to A substitution at nucleotide position 1216, causing the valine (V) at amino acid position 406 to be replaced by a methionine (M). 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