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NM_198551.4(MIA3):c.4151T>C (p.Phe1384Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV003277259.2

Allele description [Variation Report for NM_198551.4(MIA3):c.4151T>C (p.Phe1384Ser)]

NM_198551.4(MIA3):c.4151T>C (p.Phe1384Ser)

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.4151T>C (p.Phe1384Ser)
HGVS:
  • NC_000001.11:g.222653072T>C
  • NM_001300867.2:c.785T>C
  • NM_001324062.2:c.4151T>C
  • NM_001324063.2:c.3974T>C
  • NM_001324064.2:c.3659T>C
  • NM_001324065.2:c.785T>C
  • NM_198551.4:c.4151T>CMANE SELECT
  • NP_001287796.1:p.Phe262Ser
  • NP_001310991.1:p.Phe1384Ser
  • NP_001310992.1:p.Phe1325Ser
  • NP_001310993.1:p.Phe1220Ser
  • NP_001310994.1:p.Phe262Ser
  • NP_940953.2:p.Phe1384Ser
  • NC_000001.10:g.222826414T>C
  • NM_198551.2:c.4151T>C
Protein change:
F1220S
Molecular consequence:
  • NM_001300867.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324062.2:c.4151T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324063.2:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324064.2:c.3659T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324065.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198551.4:c.4151T>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
SCV003983163Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 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, SCV003983163.2

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

Description

The c.4151T>C (p.F1384S) alteration is located in exon 14 (coding exon 14) of the MIA3 gene. This alteration results from a T to C substitution at nucleotide position 4151, causing the phenylalanine (F) at amino acid position 1384 to be replaced by a serine (S). 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