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NM_153827.5(MINK1):c.2508C>G (p.Asp836Glu) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 12, 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:
RCV004207604.1

Allele description [Variation Report for NM_153827.5(MINK1):c.2508C>G (p.Asp836Glu)]

NM_153827.5(MINK1):c.2508C>G (p.Asp836Glu)

Gene:
MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_153827.5(MINK1):c.2508C>G (p.Asp836Glu)
HGVS:
  • NC_000017.11:g.4893541C>G
  • NG_028005.1:g.65202C>G
  • NM_001024937.4:c.2448C>G
  • NM_001321236.2:c.2232C>G
  • NM_015716.5:c.2397C>G
  • NM_153827.5:c.2508C>GMANE SELECT
  • NM_170663.5:c.2421C>G
  • NP_001020108.1:p.Asp816Glu
  • NP_001308165.1:p.Asp744Glu
  • NP_056531.1:p.Asp799Glu
  • NP_722549.2:p.Asp836Glu
  • NP_733763.1:p.Asp807Glu
  • NC_000017.10:g.4796836C>G
  • NM_153827.4:c.2508C>G
Protein change:
D744E
Molecular consequence:
  • NM_001024937.4:c.2448C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321236.2:c.2232C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015716.5:c.2397C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153827.5:c.2508C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170663.5:c.2421C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003709641Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 12, 2022) 		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, SCV003709641.2

#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 10, 2024