NM_004937.3(CTNS):c.771_793del (p.Gly258fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 2, 2021
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:: RCV003139887.10

Allele description [Variation Report for NM_004937.3(CTNS):c.771_793del (p.Gly258fs)]

NM_004937.3(CTNS):c.771_793del (p.Gly258fs)

Gene:

CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_004937.3(CTNS):c.771_793del (p.Gly258fs)

HGVS:

NC_000017.11:g.3658094_3658116del
NG_012489.2:g.26627_26649del
NM_001031681.3:c.771_793del
NM_001374492.1:c.771_793del
NM_001374493.1:c.330_352del
NM_001374494.1:c.330_352del
NM_001374495.1:c.330_352del
NM_001374496.1:c.330_352del
NM_004937.3:c.771_793delMANE SELECT
NP_001026851.2:p.Gly258fs
NP_001026851.2:p.Gly258fs
NP_001361421.1:p.Gly258fs
NP_001361422.1:p.Gly111fs
NP_001361423.1:p.Gly111fs
NP_001361424.1:p.Gly111fs
NP_001361425.1:p.Gly111fs
NP_004928.2:p.Gly258fs
NC_000017.10:g.3561376_3561398del
NC_000017.10:g.3561388_3561410del
NM_001031681.2:c.771_793del
NM_004937.2:c.771_793del23

Protein change:

G111fs

Links:

dbSNP: rs759623796

NCBI 1000 Genomes Browser:

rs759623796

Molecular consequence:

NM_001031681.3:c.771_793del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374492.1:c.771_793del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374493.1:c.330_352del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374494.1:c.330_352del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374495.1:c.330_352del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374496.1:c.330_352del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004937.3:c.771_793del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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sodium channel and clathrin linker 1 isoform X4 [Neogale vison]
sodium channel and clathrin linker 1 isoform X4 [Neogale vison]
gi|2112861472|ref|XP_044124172.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003819373	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 2, 2021)	germline	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

SCV003819373

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 2, 2021)

germline

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	germline	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 Revvity Omics, Revvity, SCV003819373.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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