NM_000196.4(HSD11B2):c.681G>A (p.Pro227=) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 23, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000895920.9

Allele description [Variation Report for NM_000196.4(HSD11B2):c.681G>A (p.Pro227=)]

NM_000196.4(HSD11B2):c.681G>A (p.Pro227=)

Gene:

HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_000196.4(HSD11B2):c.681G>A (p.Pro227=)

HGVS:

NC_000016.10:g.67436265G>A
NG_011482.1:g.49922C>T
NG_016549.1:g.10133G>A
NM_000196.4:c.681G>AMANE SELECT
NP_000187.3:p.Pro227=
NC_000016.9:g.67470168G>A
NC_000016.9:g.67470168G>A
NM_000196.3:c.681G>A

Links:

dbSNP: rs72650122

NCBI 1000 Genomes Browser:

rs72650122

Molecular consequence:

NM_000196.4:c.681G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001039987	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 23, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001144226	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Nov 7, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16778331, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001039987

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 23, 2024)

germline

clinical testing

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

SCV001144226

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Nov 7, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.

Kamide K, Kokubo Y, Hanada H, Nagura J, Yang J, Takiuchi S, Tanaka C, Banno M, Miwa Y, Yoshii M, Matayoshi T, Yasuda H, Horio T, Okayama A, Tomoike H, Kawano Y, Miyata T.

Hypertens Res. 2006 Apr;29(4):243-52.

PubMed [citation]

PMID:: 16778331

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001039987.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001144226.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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