NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 2022
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:: RCV001239680.2

Allele description

NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

2p15

Genomic location:

Preferred name:

NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter)

HGVS:

NC_000002.12:g.61827141_61827142insTCA
NG_028125.1:g.32002_32003insTGA
NM_001201543.2:c.1968_1969insTGAMANE SELECT
NM_032180.3:c.1800_1801insTGA
NP_001188472.1:p.Asn657Ter
NP_115556.2:p.Asn601Ter
NC_000002.11:g.62054276_62054277insTCA
NC_000002.11:g.62054276_62054277insTCA
NM_001201543.1:c.1968_1969insTGA
NR_037710.2:n.1763_1764insTGA

Protein change:

N601*

Links:

dbSNP: rs770515598

NCBI 1000 Genomes Browser:

rs770515598

Molecular consequence:

NR_037710.2:n.1763_1764insTGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001201543.2:c.1968_1969insTGA - nonsense - [Sequence Ontology: SO:0001587]
NM_032180.3:c.1800_1801insTGA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001412572	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 16, 2022)	germline	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

SCV001412572

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 16, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001412572.2

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

Description

This sequence change creates a premature translational stop signal (p.Asn657*) in the FAM161A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the FAM161A protein. This variant is present in population databases (rs770515598, gnomAD 0.06%). 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: 965276). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Jun 17, 2024

ClinVar

Relating variation to medicine