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NM_001378122.1(SH3D19):c.2236G>T (p.Ala746Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 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:
RCV004176298.1

Allele description [Variation Report for NM_001378122.1(SH3D19):c.2236G>T (p.Ala746Ser)]

NM_001378122.1(SH3D19):c.2236G>T (p.Ala746Ser)

Gene:
SH3D19:SH3 domain containing 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.3
Genomic location:
Preferred name:
NM_001378122.1(SH3D19):c.2236G>T (p.Ala746Ser)
HGVS:
  • NC_000004.12:g.151139835C>A
  • NG_029721.1:g.91674G>T
  • NG_029721.2:g.190770G>T
  • NM_001009555.4:c.1465G>T
  • NM_001128923.2:c.1396G>T
  • NM_001128924.2:c.1288G>T
  • NM_001243349.2:c.1396G>T
  • NM_001378121.1:c.2305G>T
  • NM_001378122.1:c.2236G>TMANE SELECT
  • NM_001378123.1:c.2128G>T
  • NM_001378124.1:c.2059G>T
  • NM_001378126.1:c.1465G>T
  • NM_001378127.1:c.1465G>T
  • NM_001378128.1:c.1396G>T
  • NM_001378129.1:c.1396G>T
  • NM_001378130.1:c.1396G>T
  • NM_001378131.1:c.1396G>T
  • NP_001009555.3:p.Ala489Ser
  • NP_001122395.1:p.Ala466Ser
  • NP_001122396.1:p.Ala430Ser
  • NP_001230278.1:p.Ala466Ser
  • NP_001365050.1:p.Ala769Ser
  • NP_001365051.1:p.Ala746Ser
  • NP_001365052.1:p.Ala710Ser
  • NP_001365053.1:p.Ala687Ser
  • NP_001365055.1:p.Ala489Ser
  • NP_001365056.1:p.Ala489Ser
  • NP_001365057.1:p.Ala466Ser
  • NP_001365058.1:p.Ala466Ser
  • NP_001365059.1:p.Ala466Ser
  • NP_001365060.1:p.Ala466Ser
  • NC_000004.11:g.152060987C>A
  • NM_001009555.3:c.1465G>T
Protein change:
A430S
Molecular consequence:
  • NM_001009555.4:c.1465G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128923.2:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128924.2:c.1288G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243349.2:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378121.1:c.2305G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378122.1:c.2236G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378123.1:c.2128G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378124.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378126.1:c.1465G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378127.1:c.1465G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378128.1:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378129.1:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378130.1:c.1396G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378131.1:c.1396G>T - 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
SCV003663281Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 21, 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, SCV003663281.2

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

Description

The c.1465G>T (p.A489S) alteration is located in exon 14 (coding exon 8) of the SH3D19 gene. This alteration results from a G to T substitution at nucleotide position 1465, causing the alanine (A) at amino acid position 489 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: Nov 10, 2024