NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) AND multiple conditions

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Oct 11, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000668874.2

Allele description [Variation Report for NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)]

NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)

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.508C>T (p.Arg170Ter)

HGVS:

NC_000017.11:g.58214748G>A
NG_013032.1:g.9858C>T
NM_001321268.2:c.-94-361C>T
NM_001321269.2:c.508C>T
NM_001330397.2:c.508C>T
NM_017777.4:c.508C>TMANE SELECT
NP_001308198.1:p.Arg170Ter
NP_001317326.1:p.Arg170Ter
NP_060247.2:p.Arg170Ter
NP_060247.2:p.Arg170Ter
LRG_687t1:c.508C>T
LRG_687:g.9858C>T
LRG_687p1:p.Arg170Ter
NC_000017.10:g.56292109G>A
NM_017777.3:c.508C>T

Protein change:

R170*

Links:

dbSNP: rs756853299

NCBI 1000 Genomes Browser:

rs756853299

Molecular consequence:

NM_001321268.2:c.-94-361C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001321269.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330397.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_017777.4:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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matrix metalloproteinase-14 preproprotein [Homo sapiens]
matrix metalloproteinase-14 preproprotein [Homo sapiens]
gi|4826834|ref|NP_004986.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793547	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Aug 24, 2017)	unknown	clinical testing	Citation Link,
SCV002809838	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 11, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793547

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Aug 24, 2017)

unknown

clinical testing

Citation Link,

SCV002809838

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 11, 2021)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Counsyl, SCV000793547.1

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

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

From Fulgent Genetics, Fulgent Genetics, SCV002809838.1

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

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

Last Updated: Jun 17, 2024

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