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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567357	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 13, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567357

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 13, 2015)

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, SCV000567357.3

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

#	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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