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NM_001371928.1(AHDC1):c.4482del (p.Thr1495fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 13, 2015
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:
RCV000482100.1

Allele description [Variation Report for NM_001371928.1(AHDC1):c.4482del (p.Thr1495fs)]

NM_001371928.1(AHDC1):c.4482del (p.Thr1495fs)

Gene:
AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_001371928.1(AHDC1):c.4482del (p.Thr1495fs)
HGVS:
  • NC_000001.11:g.27547635del
  • NG_034158.1:g.60861del
  • NM_001029882.3:c.4482del
  • NM_001371928.1:c.4482delMANE SELECT
  • NP_001025053.1:p.Thr1495fs
  • NP_001358857.1:p.Thr1495fs
  • NC_000001.10:g.27874146del
  • NM_001029882.2:c.4482delG
Protein change:
T1495fs
Links:
dbSNP: rs1064793924
NCBI 1000 Genomes Browser:
rs1064793924
Molecular consequence:
  • NM_001029882.3:c.4482del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371928.1:c.4482del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567357GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 13, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567357.3

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

Description

The c.4482delG deletion in the AHDC1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.4482delG deletion causes a frameshift starting with codon Threonine 1495, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Thr1495ArgfsX52. This variant is predicted to cause loss of normal protein function through protein truncation. The c.4482delG deletion was not observed in approximately 6500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Although this variant has not been previously reported to our knowledge, we interpret it as pathogenic.

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

Last Updated: Apr 23, 2022