NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs) AND Retinitis pigmentosa 28

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 19, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000665811.2

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)

Name:: Retinitis pigmentosa 28 (RP28)
Synonyms:: RP 28
Identifiers:: MONDO: MONDO:0011630; MedGen: C1419614; Orphanet: 791; OMIM: 606068

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000789990	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Mar 24, 2017)	unknown	clinical testing	Citation Link,
SCV004195954	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 19, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789990

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Mar 24, 2017)

unknown

clinical testing

Citation Link,

SCV004195954

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 19, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Counsyl, SCV000789990.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004195954.1

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

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

Last Updated: Sep 29, 2024

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