NM_001379270.1(CNGA1):c.1941G>A (p.Met647Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 9, 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:: RCV003063825.3

Allele description [Variation Report for NM_001379270.1(CNGA1):c.1941G>A (p.Met647Ile)]

NM_001379270.1(CNGA1):c.1941G>A (p.Met647Ile)

Genes:

CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
LOC101927157:uncharacterized LOC101927157 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

4p12

Genomic location:

Preferred name:

NM_001379270.1(CNGA1):c.1941G>A (p.Met647Ile)

HGVS:

NC_000004.12:g.47936541C>T
NG_009193.1:g.81404G>A
NM_000087.5:c.1941G>A
NM_001142564.2:c.1941G>A
NM_001379270.1:c.1941G>AMANE SELECT
NP_000078.3:p.Met647Ile
NP_001136036.2:p.Met647Ile
NP_001366199.1:p.Met647Ile
NC_000004.11:g.47938558C>T

Protein change:

M647I

Molecular consequence:

NM_000087.5:c.1941G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142564.2:c.1941G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379270.1:c.1941G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens family with sequence similarity 185 member A (FAM185A), transcript ...
Homo sapiens family with sequence similarity 185 member A (FAM185A), transcript variant 4, mRNA
gi|1890267663|ref|NM_001350987.2|

Nucleotide
SRX7866609 (1)
SRA
NADH dehydrogenase subunit 2 (mitochondrion) [Tylomelania marwotoae]
NADH dehydrogenase subunit 2 (mitochondrion) [Tylomelania marwotoae]
gi|2704297859|gb|WXX01563.1|

Protein
NADH dehydrogenase subunit 4L (mitochondrion) [Tylomelania abendanoni]
NADH dehydrogenase subunit 4L (mitochondrion) [Tylomelania abendanoni]
gi|2704298279|gb|WXX01773.1|

Protein
Active FOXO1 is a Key Determinant of Isoform-Specific Progesterone Receptor Tran...
Active FOXO1 is a Key Determinant of Isoform-Specific Progesterone Receptor Transactivation and Senescence Programming
Active FOXO1 is a Key Determinant of Isoform-Specific Progesterone Receptor Transactivation and Senescence Programming

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003348744	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 9, 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

SCV003348744

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 9, 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003348744.2

#	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 replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 651 of the CNGA1 protein (p.Met651Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CNGA1-related conditions. This variant is not present in population databases (gnomAD no frequency).

#	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: Sep 29, 2024

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