NM_003069.5(SMARCA1):c.7C>T (p.Gln3Ter) AND Abnormality of brain morphology

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000454288.1

Allele description [Variation Report for NM_003069.5(SMARCA1):c.7C>T (p.Gln3Ter)]

NM_003069.5(SMARCA1):c.7C>T (p.Gln3Ter)

Gene:
SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.1
Genomic location:
Preferred name:
NM_003069.5(SMARCA1):c.7C>T (p.Gln3Ter)
HGVS:
  • NC_000023.11:g.129523364G>A
  • NG_012526.1:g.5120C>T
  • NM_001282874.2:c.7C>TMANE SELECT
  • NM_001282875.2:c.7C>T
  • NM_003069.5:c.7C>T
  • NP_001269803.1:p.Gln3Ter
  • NP_001269804.1:p.Gln3Ter
  • NP_003060.2:p.Gln3Ter
  • NC_000023.10:g.128657341G>A
  • NM_003069.2:c.7C>T
Protein change:
Q3*
Links:
dbSNP: rs1060499736
NCBI 1000 Genomes Browser:
rs1060499736
Molecular consequence:
  • NM_001282874.2:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282875.2:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003069.5:c.7C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Abnormality of brain morphology
Synonyms:
Abnormality of the brain; Abnormal shape of brain
Identifiers:
MedGen: C4021085; Human Phenotype Ontology: HP:0012443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000537914Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]
PMID:
26539891
PMCID:
PMC4824012

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537914.1

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

Description

Hemizygous stop gain

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2020

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