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NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2024
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:
RCV001868207.4

Allele description [Variation Report for NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)]

NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)

Gene:
FAM161A:FAM161 centrosomal protein A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p15
Genomic location:
Preferred name:
NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)
HGVS:
  • NC_000002.12:g.61827163_61827164del
  • NG_028125.1:g.31980_31981del
  • NM_001201543.1:c.1946_1947del
  • NM_001201543.2:c.1946_1947delMANE SELECT
  • NM_032180.3:c.1778_1779del
  • NP_001188472.1:p.Gly649fs
  • NP_115556.2:p.Gly593fs
  • NC_000002.11:g.62054298_62054299del
  • NM_001201543.1:c.1946_1947delGA
  • NR_037710.2:n.1741_1742del
Protein change:
G593fs
Links:
dbSNP: rs773858764
NCBI 1000 Genomes Browser:
rs773858764
Molecular consequence:
  • NM_001201543.2:c.1946_1947del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032180.3:c.1778_1779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037710.2:n.1741_1742del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002163013Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 25, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D.

Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12.

PubMed [citation]
PMID:
20705279
PMCID:
PMC2933343
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002163013.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Gly649Glufs*4) in the FAM161A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM161A are known to be pathogenic (PMID: 20705278, 20705279, 24651477). This variant is present in population databases (rs773858764, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. ClinVar contains an entry for this variant (Variation ID: 550916). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024