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NM_014257.5(CLEC4M):c.366A>G (p.Ala122=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 1, 2023
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:
RCV004324845.1

Allele description [Variation Report for NM_014257.5(CLEC4M):c.366A>G (p.Ala122=)]

NM_014257.5(CLEC4M):c.366A>G (p.Ala122=)

Gene:
CLEC4M:C-type lectin domain family 4 member M [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_014257.5(CLEC4M):c.366A>G (p.Ala122=)
HGVS:
  • NC_000019.10:g.7765789A>G
  • NG_029190.1:g.7641A>G
  • NM_001144911.2:c.282A>G
  • NM_001416369.1:c.282A>G
  • NM_001416370.1:c.198A>G
  • NM_014257.5:c.366A>GMANE SELECT
  • NM_214677.1:c.366A>G
  • NM_214678.1:c.366A>G
  • NM_214679.1:c.303A>G
  • NP_001138383.1:p.Ala94=
  • NP_001403298.1:p.Ala94=
  • NP_001403299.1:p.Ala66=
  • NP_055072.3:p.Ala122=
  • NP_999842.1:p.Ala122=
  • NP_999843.1:p.Ala122=
  • NP_999844.1:p.Ala101=
  • NC_000019.9:g.7830675A>G
  • NM_014257.4:c.366A>G
  • NR_026707.2:n.390A>G
  • NR_026708.2:n.390A>G
Molecular consequence:
  • NR_026707.2:n.390A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_026708.2:n.390A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001144911.2:c.282A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001416369.1:c.282A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001416370.1:c.198A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014257.5:c.366A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_214677.1:c.366A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_214678.1:c.366A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_214679.1:c.303A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003988266Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003988266.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024