NM_001371928.1(AHDC1):c.1727C>T (p.Ala576Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 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:
RCV003375633.2

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1727C>T (p.Ala576Val)]

NM_001371928.1(AHDC1):c.1727C>T (p.Ala576Val)

Gene:
AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_001371928.1(AHDC1):c.1727C>T (p.Ala576Val)
HGVS:
  • NC_000001.11:g.27550389G>A
  • NG_034158.1:g.58106C>T
  • NM_001029882.2:c.1727C>T
  • NM_001029882.3:c.1727C>T
  • NM_001371928.1:c.1727C>TMANE SELECT
  • NP_001025053.1:p.Ala576Val
  • NP_001358857.1:p.Ala576Val
  • NC_000001.10:g.27876900G>A
Protein change:
A576V
Molecular consequence:
  • NM_001029882.3:c.1727C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371928.1:c.1727C>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
SCV004082574Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 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, SCV004082574.2

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

Description

The c.1727C>T (p.A576V) alteration is located in exon 6 (coding exon 1) of the AHDC1 gene. This alteration results from a C to T substitution at nucleotide position 1727, causing the alanine (A) at amino acid position 576 to be replaced by a valine (V). 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: Sep 29, 2024