NM_001242957.3(MAK):c.340dup (p.Ala114fs) AND Retinitis pigmentosa

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000132643.1

Allele description [Variation Report for NM_001242957.3(MAK):c.340dup (p.Ala114fs)]

NM_001242957.3(MAK):c.340dup (p.Ala114fs)

Gene:

MAK:male germ cell associated kinase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p24.2

Genomic location:

Preferred name:

NM_001242957.3(MAK):c.340dup (p.Ala114fs)

HGVS:

NC_000006.12:g.10813663dup
NG_030040.1:g.29894dup
NM_001242385.2:c.340dup
NM_001242957.3:c.340dupMANE SELECT
NM_001377262.1:c.238dup
NM_005906.6:c.340dup
NP_001229314.1:p.Ala114fs
NP_001229886.1:p.Ala114fs
NP_001364191.1:p.Ala80fs
NP_005897.1:p.Ala114fs
NC_000006.11:g.10813894_10813895insC
NC_000006.11:g.10813896dup
NM_001242385.1:c.340dupG
NM_001242957.3:c.340dupGMANE SELECT
NR_134935.2:n.606dup
NR_134936.2:n.767dup

Protein change:

A114fs

Links:

dbSNP: rs527236082

NCBI 1000 Genomes Browser:

rs527236082

Molecular consequence:

NM_001242385.2:c.340dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001242957.3:c.340dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377262.1:c.238dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005906.6:c.340dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_134935.2:n.606dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134936.2:n.767dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172594	Department of Ophthalmology and Visual Sciences Kyoto University	no assertion criteria provided	probable-pathogenic	not provided	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000172594

Department of Ophthalmology and Visual Sciences Kyoto University

no assertion criteria provided

probable-pathogenic

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172594.1

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

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Mar 16, 2024

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