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NM_005525.4(HSD11B1):c.744G>C (p.Gly248=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 25, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000504142.6

Allele description [Variation Report for NM_005525.4(HSD11B1):c.744G>C (p.Gly248=)]

NM_005525.4(HSD11B1):c.744G>C (p.Gly248=)

Genes:
HSD11B1-AS1:HSD11B1 antisense RNA 1 [Gene - HGNC]
HSD11B1:hydroxysteroid 11-beta dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_005525.4(HSD11B1):c.744G>C (p.Gly248=)
HGVS:
  • NC_000001.11:g.209734386G>C
  • NG_012081.1:g.53182G>C
  • NM_001206741.2:c.744G>C
  • NM_005525.4:c.744G>CMANE SELECT
  • NM_181755.3:c.744G>C
  • NP_001193670.1:p.Gly248=
  • NP_005516.1:p.Gly248=
  • NP_861420.1:p.Gly248=
  • NC_000001.10:g.209907731G>C
  • NM_005525.3:c.744G>C
Links:
dbSNP: rs41283132
NCBI 1000 Genomes Browser:
rs41283132
Molecular consequence:
  • NM_001206741.2:c.744G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005525.4:c.744G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181755.3:c.744G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000595189Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Feb 25, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genetic Services Laboratory, University of Chicago, SCV000595189.1

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

Last Updated: Oct 13, 2024