NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) AND Retinitis pigmentosa 80

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jan 5, 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:: RCV001542691.5

Allele description [Variation Report for NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)]

NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)

Gene:

IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)

HGVS:

NC_000016.10:g.1571494C>T
NG_032783.1:g.45615G>A
NM_014714.4:c.1565G>AMANE SELECT
NP_055529.2:p.Gly522Glu
NC_000016.9:g.1621495C>T
NM_014714.3:c.1565G>A
Q96RY7:p.Gly522Glu

Protein change:

G522E; GLY522GLU

Links:

UniProtKB: Q96RY7#VAR_068527; OMIM: 614620.0009; dbSNP: rs199826737

NCBI 1000 Genomes Browser:

rs199826737

Molecular consequence:

NM_014714.4:c.1565G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Retinitis pigmentosa 80 (RP80)
Identifiers:: MONDO: MONDO:0054708; MedGen: C4540439; OMIM: 617781

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760357	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Likely pathogenic	germline	clinical testing	Citation Link,
SCV004045966	Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	criteria provided, single submitter (Classification criteria August 2017)	Likely pathogenic (Jan 5, 2023)	paternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760357

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Likely pathogenic

germline

clinical testing

Citation Link,

SCV004045966

Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

criteria provided, single submitter

(Classification criteria August 2017)

Likely pathogenic
(Jan 5, 2023)

paternal

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
not provided	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760357.1

#	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

From Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München, SCV004045966.1

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

Last Updated: Mar 30, 2024

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