NM_001371928.1(AHDC1):c.1346_1347del (p.Pro449fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 20, 2020
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:: RCV001380487.7

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1346_1347del (p.Pro449fs)]

NM_001371928.1(AHDC1):c.1346_1347del (p.Pro449fs)

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.1346_1347del (p.Pro449fs)

HGVS:

NC_000001.11:g.27550769_27550770del
NG_034158.1:g.57725_57726del
NM_001029882.3:c.1346_1347del
NM_001371928.1:c.1346_1347delMANE SELECT
NP_001025053.1:p.Pro449fs
NP_001358857.1:p.Pro449fs
NC_000001.10:g.27877280_27877281del

Protein change:

P449fs

Links:

dbSNP: rs2148286911

NCBI 1000 Genomes Browser:

rs2148286911

Molecular consequence:

NM_001029882.3:c.1346_1347del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371928.1:c.1346_1347del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001578569	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 20, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24791903, 27148574, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001578569

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 20, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, et al.

Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006.

PubMed [citation]

PMID:: 24791903
PMCID:: PMC4067559

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.

Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, Tucker ME, Stoler J, Rodan LH, Stein D, Marks W, Enns GM, Platt J, Cox R, Wheeler PG, Crain C, Calhoun A, Tryon R, Richard G, Vitazka P, Chung WK.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000562. doi: 10.1101/mcs.a000562.

PubMed [citation]

PMID:: 27148574
PMCID:: PMC4850891

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001578569.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro449Argfs*67) in the AHDC1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of Xia-Gibbs syndrome (Invitae). Loss-of-function variants in AHDC1 are known to be pathogenic (PMID: 24791903, 27148574). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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