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NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) AND not specified

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Oct 2, 2023
Review status:
no classifications from unflagged records
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:
RCV001815110.5

Allele description [Variation Report for NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)]

NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)

Gene:
ALDH5A1:aldehyde dehydrogenase 5 family member A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.3
Genomic location:
Preferred name:
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)
HGVS:
  • NC_000006.12:g.24503432C>T
  • NG_008161.1:g.13464C>T
  • NM_001080.3:c.608C>TMANE SELECT
  • NM_001368954.1:c.608C>T
  • NM_170740.1:c.608C>T
  • NP_001071.1:p.Pro203Leu
  • NP_001355883.1:p.Pro203Leu
  • NP_733936.1:p.Pro203Leu
  • NC_000006.11:g.24503660C>T
Protein change:
P203L
Links:
dbSNP: rs906284769
NCBI 1000 Genomes Browser:
rs906284769
Molecular consequence:
  • NM_001080.3:c.608C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368954.1:c.608C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170740.1:c.608C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein interaction site [Variation Ontology: 0118]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002061994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002061994Genetic Services Laboratory, University of Chicago
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 21, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Oct 8, 2024