NM_001281463.1(SMC1A):c.1188+4G>A AND History of neurodevelopmental disorder

Clinical significance:Uncertain significance (Last evaluated: Dec 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000717728.1

Allele description [Variation Report for NM_001281463.1(SMC1A):c.1188+4G>A]

NM_001281463.1(SMC1A):c.1188+4G>A

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.1188+4G>A
HGVS:
  • NC_000023.11:g.53411757C>T
  • NG_006988.2:g.15914G>A
  • NM_001281463.1:c.1188+4G>A
  • NM_006306.3:c.1254+4G>A
  • LRG_773t1:c.1188+4G>A
  • LRG_773t2:c.1254+4G>A
  • LRG_773:g.15914G>A
  • NC_000023.10:g.53438707C>T
  • NM_006306.2:c.1254+4G>A
Links:
dbSNP: rs781824288
NCBI 1000 Genomes Browser:
rs781824288
Molecular consequence:
  • NM_001281463.1:c.1188+4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006306.3:c.1254+4G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000848586Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 23, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848586.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1254+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 7 in the SMC1A gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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