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NM_017777.4(MKS1):c.396T>G (p.Asp132Glu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 2022
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:
RCV003228627.1

Allele description [Variation Report for NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)]

NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
HGVS:
  • NC_000017.11:g.58216109A>C
  • NG_013032.1:g.8497T>G
  • NM_001321268.2:c.-116T>G
  • NM_001321269.2:c.396T>G
  • NM_001330397.2:c.396T>G
  • NM_001411113.1:c.396T>G
  • NM_017777.4:c.396T>GMANE SELECT
  • NP_001308198.1:p.Asp132Glu
  • NP_001317326.1:p.Asp132Glu
  • NP_001398042.1:p.Asp132Glu
  • NP_060247.2:p.Asp132Glu
  • NP_060247.2:p.Asp132Glu
  • LRG_687t1:c.396T>G
  • LRG_687:g.8497T>G
  • LRG_687p1:p.Asp132Glu
  • NC_000017.10:g.56293470A>C
  • NM_017777.3:c.396T>G
Protein change:
D132E
Molecular consequence:
  • NM_001321268.2:c.-116T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321269.2:c.396T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330397.2:c.396T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411113.1:c.396T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017777.4:c.396T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Bardet-Biedl syndrome 13 (BBS13)
Identifiers:
MONDO: MONDO:0014441; MedGen: C2673873; Orphanet: 110; OMIM: 615990
Name:
Meckel syndrome, type 1
Synonyms:
MECKEL-GRUBER SYNDROME, TYPE 1
Identifiers:
MONDO: MONDO:0009571; MedGen: C3714506; Orphanet: 564; OMIM: 249000
Name:
Joubert syndrome 28 (JBTS28)
Identifiers:
MONDO: MONDO:0014928; MedGen: C4310705; OMIM: 617121

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003925288New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(Mar 14, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV003925288.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 27, 2023