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NM_001387025.1(GRAMD1B):c.2109G>A (p.Thr703=) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Aug 8, 2017
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:
RCV000971024.4

Allele description [Variation Report for NM_001387025.1(GRAMD1B):c.2109G>A (p.Thr703=)]

NM_001387025.1(GRAMD1B):c.2109G>A (p.Thr703=)

Gene:
GRAMD1B:GRAM domain containing 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.1
Genomic location:
Preferred name:
NM_001387025.1(GRAMD1B):c.2109G>A (p.Thr703=)
HGVS:
  • NC_000011.10:g.123613540G>A
  • NM_001286563.3:c.1701G>A
  • NM_001286564.3:c.1560G>A
  • NM_001330396.3:c.1560G>A
  • NM_001367418.2:c.1761G>A
  • NM_001367419.2:c.1761G>A
  • NM_001367420.2:c.1761G>A
  • NM_001367421.2:c.1977G>A
  • NM_001387024.1:c.2109G>A
  • NM_001387025.1:c.2109G>AMANE SELECT
  • NM_001387026.1:c.2106G>A
  • NM_001387028.1:c.1680G>A
  • NM_001387029.1:c.1680G>A
  • NM_001387030.1:c.1560G>A
  • NM_001387031.1:c.1560G>A
  • NM_001387032.1:c.1560G>A
  • NM_001387033.1:c.1560G>A
  • NM_001387034.1:c.1560G>A
  • NM_001387035.1:c.1560G>A
  • NM_020716.2:c.1680G>A
  • NM_020716.4:c.1680G>A
  • NP_001273492.1:p.Thr567=
  • NP_001273493.1:p.Thr520=
  • NP_001317325.1:p.Thr520=
  • NP_001354347.1:p.Thr587=
  • NP_001354348.1:p.Thr587=
  • NP_001354349.1:p.Thr587=
  • NP_001354350.1:p.Thr659=
  • NP_001373953.1:p.Thr703=
  • NP_001373954.1:p.Thr703=
  • NP_001373955.1:p.Thr702=
  • NP_001373957.1:p.Thr560=
  • NP_001373958.1:p.Thr560=
  • NP_001373959.1:p.Thr520=
  • NP_001373960.1:p.Thr520=
  • NP_001373961.1:p.Thr520=
  • NP_001373962.1:p.Thr520=
  • NP_001373963.1:p.Thr520=
  • NP_001373964.1:p.Thr520=
  • NP_065767.1:p.Thr560=
  • NC_000011.9:g.123484248G>A
  • NM_001286563.1:c.1701G>A
Links:
dbSNP: rs62641671
NCBI 1000 Genomes Browser:
rs62641671
Molecular consequence:
  • NM_001286563.3:c.1701G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001286564.3:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330396.3:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367418.2:c.1761G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367419.2:c.1761G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367420.2:c.1761G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367421.2:c.1977G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387024.1:c.2109G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387025.1:c.2109G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387026.1:c.2106G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387028.1:c.1680G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387029.1:c.1680G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387030.1:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387031.1:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387032.1:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387033.1:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387034.1:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001387035.1:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020716.4:c.1680G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001118638Labcorp Genetics (formerly Invitae), Labcorp
    criteria provided, single submitter

    (Invitae Variant Classification Sherloc (09022015))    		Benign
    (Aug 8, 2017)     		germlineclinical testing

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

    SCV005237287Breakthrough Genomics, Breakthrough Genomics
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Benigngermlinenot provided

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyesnot providednot providednot providednot providednot providednot provided
    not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

    Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed [citation]
    PMID:
    25741868
    PMCID:
    PMC4544753

    Details of each submission

    From Labcorp Genetics (formerly Invitae), Labcorp, SCV001118638.1

    #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 Breakthrough Genomics, Breakthrough Genomics, SCV005237287.1

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

    Last Updated: Oct 13, 2024