NM_003108.4(SOX11):c.340C>T (p.Pro114Ser) AND Hypogonadotropic hypogonadism

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 25, 2024
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:: RCV004586400.1

Allele description [Variation Report for NM_003108.4(SOX11):c.340C>T (p.Pro114Ser)]

NM_003108.4(SOX11):c.340C>T (p.Pro114Ser)

Gene:

SOX11:SRY-box transcription factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.2

Genomic location:

Preferred name:

NM_003108.4(SOX11):c.340C>T (p.Pro114Ser)

HGVS:

NC_000002.12:g.5693061C>T
NG_050751.1:g.5395C>T
NM_003108.4:c.340C>TMANE SELECT
NP_003099.1:p.Pro114Ser
NC_000002.11:g.5833193C>T

Protein change:

P114S

Molecular consequence:

NM_003108.4:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypogonadotropic hypogonadism
Synonyms:: Hypogonadotrophic hypogonadism; Isolated hypogonadotropic hypogonadism; Low gonadotropins (secondary hypogonadism); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018555; MedGen: C0271623; OMIM: PS147950; Human Phenotype Ontology: HP:0000044

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Slc22a15 solute carrier family 22 (organic anion/cation transporter), member 15 ...
Slc22a15 solute carrier family 22 (organic anion/cation transporter), member 15 [Mus musculus]
Gene ID:242126

Gene
242126[uid] AND (alive[prop]) (1)
Gene
epimesquitol-epioritin-4-ol [Supplementary Concept]
epimesquitol-epioritin-4-ol [Supplementary Concept]
an ether-linked proanthocyanidin from heartwood of Acacia caffra; structure in first source<br/>Date introduced: July 24, 2000<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005077754	Reproductive Endocrine Unit, Massachusetts General Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 25, 2024)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005077754

Reproductive Endocrine Unit, Massachusetts General Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 25, 2024)

unknown

research

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

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 Reproductive Endocrine Unit, Massachusetts General Hospital, SCV005077754.1

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

Description

PM1,PM2,PP2,PP3

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

Last Updated: Jul 23, 2024

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