NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 29, 2023
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:: RCV002034608.3

Allele description [Variation Report for NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs)]

NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs)

Gene:

TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

15q13.3

Genomic location:

Preferred name:

NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs)

HGVS:

NC_000015.10:g.31031006TC[3]
NG_016453.2:g.135266AG[3]
NM_001252020.2:c.3155_3156dup
NM_001252024.2:c.3104_3105dupMANE SELECT
NM_002420.6:c.3038_3039dup
NP_001238949.1:p.Val1053fs
NP_001238953.1:p.Val1036fs
NP_002411.3:p.Val1014fs
NC_000015.9:g.31323207_31323208insCT
NC_000015.9:g.31323209TC[3]
NM_002420.5:c.3038_3039dup

Protein change:

V1014fs

Links:

dbSNP: rs754705612

NCBI 1000 Genomes Browser:

rs754705612

Molecular consequence:

NM_001252020.2:c.3155_3156dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001252024.2:c.3104_3105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002420.6:c.3038_3039dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002135829	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 29, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19896113, 19966281, 20300565, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002135829

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 29, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, et al.

Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5.

PubMed [citation]

PMID:: 19896113
PMCID:: PMC2775830

TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.

Koike C, Obara T, Uriu Y, Numata T, Sanuki R, Miyata K, Koyasu T, Ueno S, Funabiki K, Tani A, Ueda H, Kondo M, Mori Y, Tachibana M, Furukawa T.

Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):332-7. doi: 10.1073/pnas.0912730107. Epub 2009 Dec 4.

PubMed [citation]

PMID:: 19966281
PMCID:: PMC2806705

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV002135829.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1325238). This variant has not been reported in the literature in individuals affected with TRPM1-related conditions. This variant is present in population databases (rs754705612, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Val1014Argfs*7) in the TRPM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRPM1 are known to be pathogenic (PMID: 19896113, 19966281, 20300565).

#	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: Mar 16, 2024

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