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NM_198551.4(MIA3):c.2368A>C (p.Lys790Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 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:
RCV003359081.2

Allele description [Variation Report for NM_198551.4(MIA3):c.2368A>C (p.Lys790Gln)]

NM_198551.4(MIA3):c.2368A>C (p.Lys790Gln)

Gene:
MIA3:MIA SH3 domain ER export factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_198551.4(MIA3):c.2368A>C (p.Lys790Gln)
HGVS:
  • NC_000001.11:g.222629588A>C
  • NM_001324062.2:c.2368A>C
  • NM_001324063.2:c.2368A>C
  • NM_001324064.2:c.1876A>C
  • NM_198551.4:c.2368A>CMANE SELECT
  • NP_001310991.1:p.Lys790Gln
  • NP_001310992.1:p.Lys790Gln
  • NP_001310993.1:p.Lys626Gln
  • NP_940953.2:p.Lys790Gln
  • NC_000001.10:g.222802930A>C
  • NM_198551.2:c.2368A>C
Protein change:
K626Q
Molecular consequence:
  • NM_001324062.2:c.2368A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324063.2:c.2368A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324064.2:c.1876A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198551.4:c.2368A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004076870Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 22, 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, SCV004076870.2

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

Description

The c.2368A>C (p.K790Q) alteration is located in exon 4 (coding exon 4) of the MIA3 gene. This alteration results from a A to C substitution at nucleotide position 2368, causing the lysine (K) at amino acid position 790 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024