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NM_001698.3(AUH):c.140C>T (p.Pro47Leu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 5, 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:
RCV002592499.2

Allele description [Variation Report for NM_001698.3(AUH):c.140C>T (p.Pro47Leu)]

NM_001698.3(AUH):c.140C>T (p.Pro47Leu)

Genes:
LOC130002059:ATAC-STARR-seq lymphoblastoid silent region 20025 [Gene]
AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)
HGVS:
  • NC_000009.12:g.91361750G>A
  • NG_008017.1:g.5175C>T
  • NM_001306190.2:c.140C>T
  • NM_001351431.2:c.-258C>T
  • NM_001351432.2:c.-350C>T
  • NM_001351433.2:c.-258C>T
  • NM_001698.3:c.140C>TMANE SELECT
  • NP_001293119.1:p.Pro47Leu
  • NP_001689.1:p.Pro47Leu
  • LRG_449t1:c.140C>T
  • LRG_449:g.5175C>T
  • NC_000009.11:g.94124032G>A
  • NM_001698.2:c.140C>T
Protein change:
P47L
Links:
dbSNP: rs200564356
NCBI 1000 Genomes Browser:
rs200564356
Molecular consequence:
  • NM_001351431.2:c.-258C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351432.2:c.-350C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351433.2:c.-258C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001306190.2:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001698.3:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003677094Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 5, 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, SCV003677094.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 13, 2024