NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jun 15, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000415185.1

Allele description [Variation Report for NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg)]

NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg)

Gene:
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg)
HGVS:
  • NC_000023.11:g.53383246T>C
  • NG_006988.2:g.44425A>G
  • NM_001281463.1:c.2915A>G
  • NM_006306.3:c.2981A>G
  • NP_001268392.1:p.Gln972Arg
  • NP_006297.2:p.Gln994Arg
  • LRG_773t1:c.2915A>G
  • LRG_773t2:c.2981A>G
  • LRG_773:g.44425A>G
  • LRG_773p1:p.Gln972Arg
  • LRG_773p2:p.Gln994Arg
  • NC_000023.10:g.53410167T>C
Protein change:
Q972R
Links:
dbSNP: rs781817923
NCBI 1000 Genomes Browser:
rs781817923
Molecular consequence:
  • NM_001281463.1:c.2915A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006306.3:c.2981A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pectus excavatum
Synonyms:
Funnel chest
Identifiers:
MONDO: MONDO:0008213; MedGen: C2051831; OMIM: 169300; Human Phenotype Ontology: HP:0000767
Name:
Cognitive impairment
Synonyms:
Abnormality of cognition; Cognitive abnormality; Cognitive defects; See all synonyms [MedGen]
Identifiers:
MedGen: C0338656; Human Phenotype Ontology: HP:0100543
Name:
Abnormality of the corpus callosum
Synonyms:
Abnormal corpus callosum; Corpus callosum abnormality; Corpus callosum abnormalities
Identifiers:
MedGen: C1842581; Human Phenotype Ontology: HP:0001273
Name:
Dysarthria
Synonyms:
Dysarthric speech; Difficulty articulating speech
Identifiers:
MedGen: C0013362; Human Phenotype Ontology: HP:0001260
Name:
Polyneuropathy
Synonyms:
Peripheral nerve disease
Identifiers:
MONDO: MONDO:0001824; MedGen: C0152025; Human Phenotype Ontology: HP:0001271
Name:
Cerebellar atrophy
Synonyms:
Infratentorial atrophy; Degeneration of cerebellum
Identifiers:
MedGen: C0740279; Human Phenotype Ontology: HP:0001272
Name:
Pes cavus
Identifiers:
MedGen: C0728829; Human Phenotype Ontology: HP:0001761
Name:
Spastic paraplegia
Synonyms:
Spastic paraplegia, lower limb
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492619Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Uncertain significance
(Jun 15, 2015)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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