NM_000337.6(SGCD):c.*2A>C AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: May 20, 2013)

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:
RCV000036263.9

Allele description [Variation Report for NM_000337.6(SGCD):c.*2A>C]

NM_000337.6(SGCD):c.*2A>C

Gene:
SGCD:sarcoglycan delta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.3
Genomic location:
Preferred name:
NM_000337.6(SGCD):c.*2A>C
Other names:
c.*2A>C
HGVS:
  • NC_000005.10:g.156759392A>C
  • NG_008693.2:g.894050A>C
  • NM_000337.5:c.*2A>C
  • NM_000337.6:c.*2A>CMANE SELECT
  • NM_001128209.2:c.*2A>C
  • LRG_205t1:c.*2A>C
  • LRG_205:g.894050A>C
  • NC_000005.9:g.156186403A>C
Links:
dbSNP: rs200757725
NCBI 1000 Genomes Browser:
rs200757725
Molecular consequence:
  • NM_000337.5:c.*2A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000337.6:c.*2A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001128209.2:c.*2A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
Observations:
2

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
SCV000059915Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Mar 19, 2012)
germlineclinical testing

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

SCV000110519EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(May 20, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000059915.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

*2A>C in exon 9 of SGCD: This variant is not expected to have clinical significa nce because it has been identified in 0.8% (24/3134) of African American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS). *2A>C in exon 9 of SGCD (allele frequency = 0.8%, 24/313 4) **

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110519.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

Support Center