U.S. flag

An official website of the United States government

NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 31, 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:
RCV001850733.7

Allele description

NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)

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.1322C>T (p.Thr441Met)
HGVS:
  • NC_000017.11:g.58207170G>A
  • NG_013020.1:g.19443G>A
  • NG_013032.1:g.17436C>T
  • NM_001321268.2:c.713C>T
  • NM_001321269.2:c.1322C>T
  • NM_001330397.2:c.1273+724C>T
  • NM_017777.4:c.1322C>TMANE SELECT
  • NP_001308197.1:p.Thr238Met
  • NP_001308198.1:p.Thr441Met
  • NP_060247.2:p.Thr441Met
  • NP_060247.2:p.Thr441Met
  • LRG_687t1:c.1322C>T
  • LRG_687:g.17436C>T
  • LRG_687p1:p.Thr441Met
  • NC_000017.10:g.56284531G>A
  • NM_017777.3:c.1322C>T
Protein change:
T238M
Links:
dbSNP: rs367625961
NCBI 1000 Genomes Browser:
rs367625961
Molecular consequence:
  • NM_001330397.2:c.1273+724C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321268.2:c.713C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321269.2:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017777.4:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial aplasia of the vermis
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300
Name:
Meckel-Gruber syndrome
Synonyms:
DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Dysencephalia splachnocystica
Identifiers:
MONDO: MONDO:0018921; MedGen: C0265215; OMIM: PS249000

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002196232Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 31, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Invitae, SCV002196232.4

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

Last Updated: Sep 16, 2024