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NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 23, 2015
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:
RCV000414929.2

Allele description [Variation Report for NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)]

NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
HGVS:
  • NC_000017.11:g.58208155_58208157del
  • NG_013032.1:g.16451_16453del
  • NM_001321268.2:c.506_508del
  • NM_001321269.2:c.1115_1117del
  • NM_001330397.2:c.1115_1117del
  • NM_017777.4:c.1115_1117delMANE SELECT
  • NP_001308197.1:p.Ser169del
  • NP_001308198.1:p.Ser372del
  • NP_001317326.1:p.Ser372del
  • NP_060247.2:p.Ser372del
  • LRG_687:g.16451_16453del
  • NC_000017.10:g.56285514_56285516del
  • NC_000017.10:g.56285516_56285518del
  • NM_017777.3:c.1115_1117delCCT
Protein change:
S169del
Links:
OMIM: 609883.0011; dbSNP: rs754279998
NCBI 1000 Genomes Browser:
rs754279998
Molecular consequence:
  • NM_001321268.2:c.506_508del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001321269.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330397.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_017777.4:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Polydactyly
Synonyms:
Extra digits; Supernumerary digits; Polydactylia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021003; MedGen: C0152427; OMIM: 603596; Human Phenotype Ontology: HP:0010442
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Rotary nystagmus
Identifiers:
MedGen: C0240595; Human Phenotype Ontology: HP:0001583
Name:
Limb undergrowth
Synonyms:
Short limbs; short extremities
Identifiers:
MedGen: C0239399; Human Phenotype Ontology: HP:0009826
Name:
Chronic kidney disease
Identifiers:
MONDO: MONDO:0005300; MedGen: C1561643; Human Phenotype Ontology: HP:0012622

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492770Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 23, 2015)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492770.1

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

Last Updated: May 12, 2024