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NM_001278064.2(GRM1):c.33G>C (p.Ala11=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 21, 2022
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:
RCV000711865.5

Allele description

NM_001278064.2(GRM1):c.33G>C (p.Ala11=)

Gene:
GRM1:glutamate metabotropic receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q24.3
Genomic location:
Preferred name:
NM_001278064.2(GRM1):c.33G>C (p.Ala11=)
HGVS:
  • NC_000006.12:g.146029550G>C
  • NG_012839.2:g.6905G>C
  • NM_001278064.2:c.33G>CMANE SELECT
  • NM_001278065.2:c.33G>C
  • NM_001278066.1:c.33G>C
  • NM_001278067.1:c.33G>C
  • NP_001264993.1:p.Ala11=
  • NP_001264994.1:p.Ala11=
  • NP_001264995.1:p.Ala11=
  • NP_001264996.1:p.Ala11=
  • NC_000006.11:g.146350686G>C
  • NG_012839.1:g.6905G>C
  • NM_001278064.1:c.33G>C
Links:
dbSNP: rs199734282
NCBI 1000 Genomes Browser:
rs199734282
Molecular consequence:
  • NM_001278064.2:c.33G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278065.2:c.33G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278066.1:c.33G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278067.1:c.33G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000842272Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Likely benign
(Oct 18, 2017)
germlineclinical testing

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

SCV003487255Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Aug 21, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

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 Athena Diagnostics, SCV000842272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV003487255.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024