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NM_015166.4(MLC1):c.*1836G>A AND not provided

Germline classification:
Benign (1 submission)
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:
RCV004713822.1

Allele description [Variation Report for NM_015166.4(MLC1):c.*1836G>A]

NM_015166.4(MLC1):c.*1836G>A

Gene:
MLC1:modulator of VRAC current 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_015166.4(MLC1):c.*1836G>A
HGVS:
  • NC_000022.11:g.50059747C>T
  • NG_009162.1:g.31183G>A
  • NM_001376472.1:c.*1836G>A
  • NM_001376473.1:c.*1836G>A
  • NM_001376474.1:c.*1836G>A
  • NM_001376475.1:c.*1836G>A
  • NM_001376476.1:c.*1836G>A
  • NM_001376477.1:c.*451G>A
  • NM_001376478.1:c.*451G>A
  • NM_001376479.1:c.*1836G>A
  • NM_001376480.1:c.*1836G>A
  • NM_001376481.1:c.*1836G>A
  • NM_001376482.1:c.*1836G>A
  • NM_001376483.1:c.*1836G>A
  • NM_001376484.1:c.*1836G>A
  • NM_015166.4:c.*1836G>AMANE SELECT
  • NM_139202.3:c.*1836G>A
  • NC_000022.10:g.50498176C>T
  • NM_015166.3:c.*1836G>A
  • NR_164811.1:n.2017G>A
  • NR_164812.1:n.1849G>A
  • NR_164813.1:n.2194G>A
Links:
dbSNP: rs11703598
NCBI 1000 Genomes Browser:
rs11703598
Molecular consequence:
  • NM_001376472.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376473.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376474.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376475.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376476.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376477.1:c.*451G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376478.1:c.*451G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376479.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376480.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376481.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376482.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376483.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001376484.1:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_015166.4:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_139202.3:c.*1836G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_164811.1:n.2017G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164812.1:n.1849G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164813.1:n.2194G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005275818Breakthrough 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

Citations

PubMed

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 Breakthrough Genomics, Breakthrough Genomics, SCV005275818.1

#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: Sep 29, 2024