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NM_001371928.1(AHDC1):c.1153_1154insCGCCGCAA (p.Arg385fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 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:
RCV000482124.1

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1153_1154insCGCCGCAA (p.Arg385fs)]

NM_001371928.1(AHDC1):c.1153_1154insCGCCGCAA (p.Arg385fs)

Gene:
AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_001371928.1(AHDC1):c.1153_1154insCGCCGCAA (p.Arg385fs)
HGVS:
  • NC_000001.11:g.27550962_27550963insTTGCGGCG
  • NG_034158.1:g.57532_57533insCGCCGCAA
  • NM_001029882.3:c.1153_1154insCGCCGCAA
  • NM_001371928.1:c.1153_1154insCGCCGCAAMANE SELECT
  • NP_001025053.1:p.Arg385fs
  • NP_001358857.1:p.Arg385fs
  • NC_000001.10:g.27877473_27877474insTTGCGGCG
  • NM_001029882.2:c.1153_1154insCGCCGCAA
Protein change:
R385fs
Links:
dbSNP: rs1064795000
NCBI 1000 Genomes Browser:
rs1064795000
Molecular consequence:
  • NM_001029882.3:c.1153_1154insCGCCGCAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371928.1:c.1153_1154insCGCCGCAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570374GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 16, 2016) 		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, SCV000570374.4

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

Description

The c.1153_1154insCGCCGCAA pathogenic variant in the AHDC1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1153_1154insCGCCGCAA variant causes a frameshift starting with codon Arginine 385, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 70 of the new reading frame, denoted p.Arg385ProfsX70. This variant is predicted to cause loss of normal protein function through protein truncation as the last 1219 amino acids of the AHDC1 protein are lost and replaced with 69 incorrect amino acids. The c.1153_1154insCGCCGCAA variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1153_1154insCGCCGCAA as a pathogenic variant.

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

Last Updated: Apr 23, 2022