NM_000843.4(GRM6):c.440_448dup (p.Ala147_Val149dup) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 5, 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:: RCV002008509.6

Allele description [Variation Report for NM_000843.4(GRM6):c.440_448dup (p.Ala147_Val149dup)]

NM_000843.4(GRM6):c.440_448dup (p.Ala147_Val149dup)

Gene:

GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_000843.4(GRM6):c.440_448dup (p.Ala147_Val149dup)

HGVS:

NC_000005.10:g.178994505_178994513dup
NG_008105.1:g.5619_5627dup
NM_000843.4:c.440_448dupMANE SELECT
NP_000834.2:p.Ala147_Val149dup
LRG_1236t1:c.440_448dup
LRG_1236:g.5619_5627dup
LRG_1236p1:p.Ala147_Val149dup
NC_000005.9:g.178421497_178421498insCCACGACGG
NC_000005.9:g.178421506_178421514dup

Links:

dbSNP: rs2113347555

NCBI 1000 Genomes Browser:

rs2113347555

Molecular consequence:

NM_000843.4:c.440_448dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Maylandia zebra isolate #2_Kocher and #3_Kocher ecotype Mazinzi reef linkage group LG18, whole genome shotgun sequence
gi|1376007789|gb|CM009197.2||gnl|WG A|lg18

Nucleotide
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Maylandia zebra isolate #2_Kocher and #3_Kocher ecotype Mazinzi reef linkage group LG23, whole genome shotgun sequence
gi|1376007785|gb|CM009201.2||gnl|WG A|lg23

Nucleotide
Maylandia zebra isolate #2_Kocher and #3_Kocher ecotype Mazinzi reef linkage gro...
Maylandia zebra isolate #2_Kocher and #3_Kocher ecotype Mazinzi reef linkage group LG8, whole genome shotgun sequence
gi|1376007799|gb|CM009187.2||gnl|WG A|lg8

Nucleotide
Synura synuroidea
Synura synuroidea
Chrysodidymus synuroideus

BioProject
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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002271831	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 5, 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

SCV002271831

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 5, 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, SCV002271831.3

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

Description

This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1485234). This variant has not been reported in the literature in individuals affected with GRM6-related conditions. This variant, c.440_448dup, results in the insertion of 3 amino acid(s) of the GRM6 protein (p.Ala147_Val149dup), but otherwise preserves the integrity of the reading frame.

#	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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