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NM_018009.5(TAPBPL):c.526A>C (p.Asn176His) AND Marfanoid habitus and intellectual disability

Germline classification:
Uncertain significance (1 submission)
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:
RCV000850430.3

Allele description [Variation Report for NM_018009.5(TAPBPL):c.526A>C (p.Asn176His)]

NM_018009.5(TAPBPL):c.526A>C (p.Asn176His)

Gene:
TAPBPL:TAP binding protein like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_018009.5(TAPBPL):c.526A>C (p.Asn176His)
HGVS:
  • NC_000012.12:g.6453677A>C
  • NG_031995.1:g.13793A>C
  • NM_001351355.2:c.136A>C
  • NM_018009.5:c.526A>CMANE SELECT
  • NP_001338284.1:p.Asn46His
  • NP_060479.3:p.Asn176His
  • LRG_357:g.13793A>C
  • NC_000012.11:g.6562843A>C
  • NM_018009.4:c.526A>C
  • NR_147126.2:n.598A>C
  • NR_147127.2:n.733A>C
  • NR_147128.2:n.733A>C
  • NR_147129.2:n.733A>C
Protein change:
N176H
Links:
dbSNP: rs1592129355
NCBI 1000 Genomes Browser:
rs1592129355
Molecular consequence:
  • NM_001351355.2:c.136A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018009.5:c.526A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147126.2:n.598A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147127.2:n.733A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147128.2:n.733A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147129.2:n.733A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Marfanoid habitus and intellectual disability
Identifiers:
MedGen: CN263130

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992628Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancede novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000992628.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024