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NM_024666.5(AAGAB):c.505_506dup (p.Asn169fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 2017
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:
RCV001380750.14

Allele description [Variation Report for NM_024666.5(AAGAB):c.505_506dup (p.Asn169fs)]

NM_024666.5(AAGAB):c.505_506dup (p.Asn169fs)

Gene:
AAGAB:alpha and gamma adaptin binding protein [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_024666.5(AAGAB):c.505_506dup (p.Asn169fs)
HGVS:
  • NC_000015.10:g.67231843_67231844dup
  • NG_033007.1:g.28355_28356dup
  • NM_001271885.2:c.178_179dup
  • NM_001271886.2:c.178_179dup
  • NM_024666.5:c.505_506dupMANE SELECT
  • NP_001258814.1:p.Asn60fs
  • NP_001258815.1:p.Asn60fs
  • NP_078942.3:p.Asn169fs
  • NC_000015.9:g.67524180_67524181insTT
  • NC_000015.9:g.67524181_67524182dup
Protein change:
N169fs
Links:
dbSNP: rs2140373111
NCBI 1000 Genomes Browser:
rs2140373111
Molecular consequence:
  • NM_001271885.2:c.178_179dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001271886.2:c.178_179dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024666.5:c.505_506dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001578907Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 11, 2017) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.

Furniss M, Higgins CA, Martinez-Mir A, Horev L, Petukhova L, Stanimirović A, Miljković J, Zlotogorski A, Christiano AM.

J Invest Dermatol. 2014 Jun;134(6):1749-1752. doi: 10.1038/jid.2014.4. Epub 2014 Jan 3. No abstract available.

PubMed [citation]
PMID:
24390136
PMCID:
PMC4870379

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, et al.

Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14.

PubMed [citation]
PMID:
23064416
PMCID:
PMC3836166
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001578907.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Asn169Lysfs*7) in the AAGAB gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AAGAB are known to be pathogenic (PMID: 24390136, 23064416, 23000146, 23633024, 23563198). This variant has been reported in an individual affected with palmoplantar keratorderma (PMID: 26608363). This variant is not present in population databases (ExAC no frequency).

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

Last Updated: Oct 13, 2024