NM_001371928.1(AHDC1):c.2691del (p.Val898fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 6, 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:: RCV000371677.1

Allele description [Variation Report for NM_001371928.1(AHDC1):c.2691del (p.Val898fs)]

NM_001371928.1(AHDC1):c.2691del (p.Val898fs)

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.2691del (p.Val898fs)

HGVS:

NC_000001.11:g.27549425del
NG_034158.1:g.59070del
NM_001029882.3:c.2691del
NM_001371928.1:c.2691delMANE SELECT
NP_001025053.1:p.Val898fs
NP_001358857.1:p.Val898fs
NC_000001.10:g.27875936del
NM_001029882.2:c.2691delA

Protein change:

V898fs

Links:

dbSNP: rs886041676

NCBI 1000 Genomes Browser:

rs886041676

Molecular consequence:

NM_001029882.3:c.2691del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371928.1:c.2691del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

nodulin homeobox [Cucurbita moschata]
nodulin homeobox [Cucurbita moschata]
gi|1279792156|ref|XP_022949177.1|

Protein
WD repeat-containing protein 7 isoform X1 [Cucumis melo var. makuwa]
WD repeat-containing protein 7 isoform X1 [Cucumis melo var. makuwa]
gi|1735203051|gb|KAA0044849.1||gnl| STE|E6C27_scaffold74G001410

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330401	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Apr 6, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330401

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Apr 6, 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, SCV000330401.6

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

Description

The c.2691delA pathogenic variant in the AHDC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This frameshift pathogenic variant replaces the typical last 706 amino acid residues in the AHDC1 protein with 33 different amino acid residues. This change is expected to alter the normal structure and function of the resultant protein. The AHDC1 variant was not observed in approximately 6500 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: Jul 29, 2023

ClinVar

Relating variation to medicine