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NM_001128.6(AP1G1):c.2039del (p.Gln680fs) AND Usmani-Riazuddin syndrome, autosomal dominant

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 27, 2024
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:
RCV003986071.2

Allele description

NM_001128.6(AP1G1):c.2039del (p.Gln680fs)

Gene:
AP1G1:adaptor related protein complex 1 subunit gamma 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q22.2
Genomic location:
Preferred name:
NM_001128.6(AP1G1):c.2039del (p.Gln680fs)
HGVS:
  • NC_000016.10:g.71739302del
  • NM_001030007.2:c.2048del
  • NM_001128.6:c.2039delMANE SELECT
  • NP_001025178.1:p.Gln683fs
  • NP_001119.3:p.Gln680fs
  • NC_000016.9:g.71773205del
Protein change:
Q680fs
Molecular consequence:
  • NM_001030007.2:c.2048del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128.6:c.2039del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Usmani-Riazuddin syndrome, autosomal dominant (USRISD)
Identifiers:
MONDO: MONDO:0859174; MedGen: C5561952; OMIM: 619467

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801762Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 27, 2024) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV004801762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The detected change is not reported in the general population (gnomAD) (as of February 27, 2024). It has not yet been described in the ClinVar database or in the literature. The variant represents a frame shift with a subsequent stop codon. This usually leads to either premature termination of translation or a so-called “nonsense-mediated mRNA decay”. In both cases there is a loss of function of the protein. Intolerance to haploinsufficiency has been described as the pathomechanism for the gene under investigation. It is therefore very likely that it has a pathogenetic relevance. The variant is currently considered a “likely pathogenic variant” (ACMG criteria).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024