NM_001281463.1(SMC1A):c.-231C>T AND not specified

Clinical significance:Benign (Last evaluated: Aug 18, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000081383.5

Allele description [Variation Report for NM_001281463.1(SMC1A):c.-231C>T]

NM_001281463.1(SMC1A):c.-231C>T

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.-231C>T
HGVS:
  • NC_000023.11:g.53422619G>A
  • NG_006988.2:g.5052C>T
  • NG_033076.2:g.4765G>A
  • NM_001281463.1:c.-231C>T
  • NM_006306.3:c.-19C>T
  • LRG_773t1:c.-231C>T
  • LRG_773t2:c.-19C>T
  • LRG_773:g.5052C>T
  • NC_000023.10:g.53449568G>A
  • NM_006306.2:c.-19C>T
Links:
dbSNP: rs1264011
NCBI 1000 Genomes Browser:
rs1264011
Molecular consequence:
  • NM_001281463.1:c.-231C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_006306.3:c.-19C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
Observations:
27

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000113314EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Aug 18, 2014)
germlineclinical testing

Citation Link,

SCV000311446PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown27not 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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000113314.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided27not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided27not providednot providednot provided

From PreventionGenetics,PreventionGenetics, SCV000311446.1

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

Last Updated: Oct 2, 2021

Support Center