NM_006269.2(RP1):c.2245C>T (p.Leu749Phe) AND Retinal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 2018
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:: RCV001074029.2

Allele description [Variation Report for NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)]

NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)

Gene:

RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.1

Genomic location:

Preferred name:

NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)

HGVS:

NC_000008.11:g.54626127C>T
NG_009840.2:g.15061C>T
NM_006269.2:c.2245C>TMANE SELECT
NP_006260.1:p.Leu749Phe
NC_000008.10:g.55538687C>T
NG_009840.1:g.15061C>T
NM_006269.1:c.2245C>T

Protein change:

L749F

Links:

dbSNP: rs147990983

NCBI 1000 Genomes Browser:

rs147990983

Molecular consequence:

NM_006269.2:c.2245C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

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hypothetical protein KK1_005850 [Cajanus cajan]
hypothetical protein KK1_005850 [Cajanus cajan]
gi|1012362052|gb|KYP73235.1||gnl|WG T|KK1_005850

Protein
uncharacterized protein LOC103501168 isoform X3 [Cucumis melo]
uncharacterized protein LOC103501168 isoform X3 [Cucumis melo]
gi|659125870|ref|XP_008462898.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239596	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Oct 31, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239596

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Oct 31, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV001239596.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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