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NM_003888.4(ALDH1A2):c.230T>C (p.Ile77Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 19, 2024
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:
RCV004627382.1

Allele description [Variation Report for NM_003888.4(ALDH1A2):c.230T>C (p.Ile77Thr)]

NM_003888.4(ALDH1A2):c.230T>C (p.Ile77Thr)

Gene:
ALDH1A2:aldehyde dehydrogenase 1 family member A2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.3
Genomic location:
Preferred name:
NM_003888.4(ALDH1A2):c.230T>C (p.Ile77Thr)
HGVS:
  • NC_000015.10:g.58013991A>G
  • NG_012259.1:g.56718T>C
  • NM_001206897.2:c.167T>C
  • NM_003888.4:c.230T>CMANE SELECT
  • NM_170696.3:c.230T>C
  • NM_170697.3:c.-59T>C
  • NP_001193826.1:p.Ile56Thr
  • NP_003879.2:p.Ile77Thr
  • NP_733797.1:p.Ile77Thr
  • NC_000015.9:g.58306189A>G
  • NM_003888.3:c.230T>C
Protein change:
I56T
Molecular consequence:
  • NM_170697.3:c.-59T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001206897.2:c.167T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003888.4:c.230T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170696.3:c.230T>C - 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
SCV005129053Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 19, 2024) 		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, SCV005129053.1

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

Description

The c.230T>C (p.I77T) alteration is located in exon 3 (coding exon 3) of the ALDH1A2 gene. This alteration results from a T to C substitution at nucleotide position 230, causing the isoleucine (I) at amino acid position 77 to be replaced by a threonine (T). 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: Aug 11, 2024