NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) AND McKusick-Kaufman syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 17, 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:: RCV003987753.3

Allele description [Variation Report for NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)]

NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)

Gene:

MKKS:MKKS centrosomal shuttling protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.2

Genomic location:

Preferred name:

NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)

HGVS:

NC_000020.11:g.10413399G>A
NG_009109.2:g.25820C>T
NM_018848.3:c.116C>T
NM_170784.3:c.116C>TMANE SELECT
NP_061336.1:p.Pro39Leu
NP_740754.1:p.Pro39Leu
NP_740754.1:p.Pro39Leu
NC_000020.10:g.10394047G>A
NM_170784.2:c.116C>T

Protein change:

P39L

Links:

dbSNP: rs1270369106

NCBI 1000 Genomes Browser:

rs1270369106

Molecular consequence:

NM_018848.3:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_170784.3:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: McKusick-Kaufman syndrome (MKKS)
Synonyms:: Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
Identifiers:: MONDO: MONDO:0009367; MedGen: C0948368; Orphanet: 2473; OMIM: 236700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004804655	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 17, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004804655

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 17, 2024)

germline

research

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

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	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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004804655.2

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

Last Updated: Aug 4, 2024

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