NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) AND Retinitis pigmentosa

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001138007.12

Allele description [Variation Report for NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)]

NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)

Gene:

FAM161A:FAM161 centrosomal protein A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

Preferred name:

NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)

HGVS:

NC_000002.12:g.61839851G>C
NG_028125.1:g.19293C>G
NM_001201543.2:c.1153C>GMANE SELECT
NM_032180.3:c.1153C>G
NP_001188472.1:p.Gln385Glu
NP_115556.2:p.Gln385Glu
NC_000002.11:g.62066986G>C
NM_001201543.1:c.1153C>G
NM_032180.2:c.1153C>G
NR_037710.2:n.1116C>G

Protein change:

Q385E

Links:

dbSNP: rs139266382

NCBI 1000 Genomes Browser:

rs139266382

Molecular consequence:

NM_001201543.2:c.1153C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032180.3:c.1153C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_037710.2:n.1116C>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001298015	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20705278, 24651477 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001298015

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.

Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12.

PubMed [citation]

PMID:: 20705278
PMCID:: PMC2933350

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL.

PLoS One. 2014;9(3):e92479. doi: 10.1371/journal.pone.0092479.

PubMed [citation]

PMID:: 24651477
PMCID:: PMC3961368

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001298015.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine