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NM_001395207.1(SORBS2):c.3645C>G (p.Ser1215Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2021
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004103827.1

Allele description [Variation Report for NM_001395207.1(SORBS2):c.3645C>G (p.Ser1215Arg)]

NM_001395207.1(SORBS2):c.3645C>G (p.Ser1215Arg)

Gene:
SORBS2:sorbin and SH3 domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.1
Genomic location:
Preferred name:
NM_001395207.1(SORBS2):c.3645C>G (p.Ser1215Arg)
HGVS:
  • NC_000004.12:g.185611819G>C
  • NG_029709.1:g.349898C>G
  • NM_001145670.2:c.1677C>G
  • NM_001145671.3:c.1938C>G
  • NM_001145672.2:c.1728C>G
  • NM_001145673.3:c.2217C>G
  • NM_001145674.3:c.2757C>G
  • NM_001145675.3:c.1221C>G
  • NM_001270771.3:c.3345C>G
  • NM_001394245.1:c.3603C>G
  • NM_001394246.1:c.3546C>G
  • NM_001394247.1:c.3546C>G
  • NM_001394248.1:c.3477C>G
  • NM_001394249.1:c.3477C>G
  • NM_001394250.1:c.3462C>G
  • NM_001394251.1:c.3345C>G
  • NM_001394252.1:c.3345C>G
  • NM_001394253.1:c.3345C>G
  • NM_001394254.1:c.3345C>G
  • NM_001394255.1:c.3303C>G
  • NM_001394256.1:c.3303C>G
  • NM_001394257.1:c.3303C>G
  • NM_001394258.1:c.3288C>G
  • NM_001394259.1:c.3258C>G
  • NM_001394260.1:c.3258C>G
  • NM_001394261.1:c.3252C>G
  • NM_001394262.1:c.3234C>G
  • NM_001394263.1:c.3234C>G
  • NM_001394264.1:c.3159C>G
  • NM_001394265.1:c.3138C>G
  • NM_001394266.1:c.3045C>G
  • NM_001394267.1:c.3045C>G
  • NM_001394268.1:c.3045C>G
  • NM_001394270.1:c.3045C>G
  • NM_001394271.1:c.3045C>G
  • NM_001394272.1:c.3045C>G
  • NM_001394273.1:c.3018C>G
  • NM_001394274.1:c.3000C>G
  • NM_001394275.1:c.3000C>G
  • NM_001394276.1:c.2934C>G
  • NM_001394277.1:c.2802C>G
  • NM_001395207.1:c.3645C>GMANE SELECT
  • NM_003603.7:c.1743C>G
  • NM_021069.6:c.3045C>G
  • NP_001139142.1:p.Ser559Arg
  • NP_001139143.1:p.Ser646Arg
  • NP_001139144.1:p.Ser576Arg
  • NP_001139145.1:p.Ser739Arg
  • NP_001139146.1:p.Ser919Arg
  • NP_001139147.1:p.Ser407Arg
  • NP_001257700.1:p.Ser1115Arg
  • NP_001381174.1:p.Ser1201Arg
  • NP_001381175.1:p.Ser1182Arg
  • NP_001381176.1:p.Ser1182Arg
  • NP_001381177.1:p.Ser1159Arg
  • NP_001381178.1:p.Ser1159Arg
  • NP_001381179.1:p.Ser1154Arg
  • NP_001381180.1:p.Ser1115Arg
  • NP_001381181.1:p.Ser1115Arg
  • NP_001381182.1:p.Ser1115Arg
  • NP_001381183.1:p.Ser1115Arg
  • NP_001381184.1:p.Ser1101Arg
  • NP_001381185.1:p.Ser1101Arg
  • NP_001381186.1:p.Ser1101Arg
  • NP_001381187.1:p.Ser1096Arg
  • NP_001381188.1:p.Ser1086Arg
  • NP_001381189.1:p.Ser1086Arg
  • NP_001381190.1:p.Ser1084Arg
  • NP_001381191.1:p.Ser1078Arg
  • NP_001381192.1:p.Ser1078Arg
  • NP_001381193.1:p.Ser1053Arg
  • NP_001381194.1:p.Ser1046Arg
  • NP_001381195.1:p.Ser1015Arg
  • NP_001381196.1:p.Ser1015Arg
  • NP_001381197.1:p.Ser1015Arg
  • NP_001381199.1:p.Ser1015Arg
  • NP_001381200.1:p.Ser1015Arg
  • NP_001381201.1:p.Ser1015Arg
  • NP_001381202.1:p.Ser1006Arg
  • NP_001381203.1:p.Ser1000Arg
  • NP_001381204.1:p.Ser1000Arg
  • NP_001381205.1:p.Ser978Arg
  • NP_001381206.1:p.Ser934Arg
  • NP_001382136.1:p.Ser1215Arg
  • NP_003594.3:p.Ser581Arg
  • NP_066547.1:p.Ser1015Arg
  • NC_000004.11:g.186532973G>C
  • NM_021069.4:c.3045C>G
...more
Protein change:
S1000R
Molecular consequence:
  • NM_001145670.2:c.1677C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145671.3:c.1938C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145672.2:c.1728C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145673.3:c.2217C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145674.3:c.2757C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145675.3:c.1221C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270771.3:c.3345C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394245.1:c.3603C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394246.1:c.3546C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394247.1:c.3546C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394248.1:c.3477C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394249.1:c.3477C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394250.1:c.3462C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394251.1:c.3345C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394252.1:c.3345C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394253.1:c.3345C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394254.1:c.3345C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394255.1:c.3303C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394256.1:c.3303C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394257.1:c.3303C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394258.1:c.3288C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394259.1:c.3258C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394260.1:c.3258C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394261.1:c.3252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394262.1:c.3234C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394263.1:c.3234C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394264.1:c.3159C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394265.1:c.3138C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394266.1:c.3045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394267.1:c.3045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394268.1:c.3045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394270.1:c.3045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394271.1:c.3045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394272.1:c.3045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394273.1:c.3018C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394274.1:c.3000C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394275.1:c.3000C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394276.1:c.2934C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394277.1:c.2802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395207.1:c.3645C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003603.7:c.1743C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021069.6:c.3045C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003571450Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 12, 2021)
germlineclinical testing

Citation Link

Last Updated: Nov 24, 2024

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