NM_001371928.1(AHDC1):c.2693dup (p.Ala899fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 4, 2016
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:: RCV000297731.1

Allele description [Variation Report for NM_001371928.1(AHDC1):c.2693dup (p.Ala899fs)]

NM_001371928.1(AHDC1):c.2693dup (p.Ala899fs)

Gene:

AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_001371928.1(AHDC1):c.2693dup (p.Ala899fs)

HGVS:

NC_000001.11:g.27549423dup
NG_034158.1:g.59072dup
NM_001029882.3:c.2693dup
NM_001371928.1:c.2693dupMANE SELECT
NP_001025053.1:p.Ala899fs
NP_001358857.1:p.Ala899fs
NC_000001.10:g.27875934dup
NM_001029882.2:c.2693dupT

Protein change:

A899fs

Links:

dbSNP: rs886041920

NCBI 1000 Genomes Browser:

rs886041920

Molecular consequence:

NM_001029882.3:c.2693dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371928.1:c.2693dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Rattus norvegicus basic leucine zipper and W2 domains 2 (Bzw2), mRNA
Rattus norvegicus basic leucine zipper and W2 domains 2 (Bzw2), mRNA
gi|150246533|ref|NM_134402.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330723	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 4, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330723

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 4, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000330723.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.2693dupT pathogenic variant in the AHDC1 gene causes a frameshift starting with codon Alanine 899, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.A899GfsX4. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 705 amino acids are replaced with 3 incorrect amino acids. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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