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NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 14, 2021
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:
RCV002245514.3

Allele description [Variation Report for NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)]

NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)

Gene:
SHANK1:SH3 and multiple ankyrin repeat domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)
HGVS:
  • NC_000019.10:g.50688867G>A
  • NM_016148.5:c.2149C>TMANE SELECT
  • NP_057232.2:p.Arg717Ter
  • NC_000019.9:g.51192124G>A
  • NM_016148.4:c.2149C>T
Protein change:
R717*
Links:
dbSNP: rs2123136215
NCBI 1000 Genomes Browser:
rs2123136215
Molecular consequence:
  • NM_016148.5:c.2149C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Cleft palate
Synonyms:
Cleft hard and soft palate
Identifiers:
MONDO: MONDO:0016064; MedGen: C2981150; Human Phenotype Ontology: HP:0000175

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515819HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 14, 2021) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not 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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS, SCV002515819.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes: PVS1,PS2,PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023