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NM_001395207.1(SORBS2):c.1542A>G (p.Ile514Met) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 1, 2022
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:
RCV004174841.1

Allele description [Variation Report for NM_001395207.1(SORBS2):c.1542A>G (p.Ile514Met)]

NM_001395207.1(SORBS2):c.1542A>G (p.Ile514Met)

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.1542A>G (p.Ile514Met)
HGVS:
  • NC_000004.12:g.185624475T>C
  • NG_029709.1:g.337242A>G
  • NM_001145670.2:c.1135+2357A>G
  • NM_001145671.3:c.1396+2357A>G
  • NM_001145672.2:c.1186+2357A>G
  • NM_001145673.3:c.1675+2357A>G
  • NM_001145674.3:c.654A>G
  • NM_001145675.3:c.679+2357A>G
  • NM_001270771.3:c.1242A>G
  • NM_001394245.1:c.1500A>G
  • NM_001394246.1:c.1443A>G
  • NM_001394247.1:c.1443A>G
  • NM_001394248.1:c.1374A>G
  • NM_001394249.1:c.1374A>G
  • NM_001394250.1:c.1359A>G
  • NM_001394251.1:c.1242A>G
  • NM_001394252.1:c.1242A>G
  • NM_001394253.1:c.1242A>G
  • NM_001394254.1:c.1242A>G
  • NM_001394255.1:c.1200A>G
  • NM_001394256.1:c.1200A>G
  • NM_001394257.1:c.1200A>G
  • NM_001394258.1:c.1185A>G
  • NM_001394259.1:c.1155A>G
  • NM_001394260.1:c.1155A>G
  • NM_001394261.1:c.1149A>G
  • NM_001394262.1:c.1131A>G
  • NM_001394263.1:c.1131A>G
  • NM_001394264.1:c.1056A>G
  • NM_001394265.1:c.1035A>G
  • NM_001394266.1:c.942A>G
  • NM_001394267.1:c.942A>G
  • NM_001394268.1:c.942A>G
  • NM_001394270.1:c.942A>G
  • NM_001394271.1:c.942A>G
  • NM_001394272.1:c.942A>G
  • NM_001394273.1:c.915A>G
  • NM_001394274.1:c.897A>G
  • NM_001394275.1:c.897A>G
  • NM_001394276.1:c.2392+2357A>G
  • NM_001394277.1:c.699A>G
  • NM_001395207.1:c.1542A>GMANE SELECT
  • NM_003603.7:c.1201+2357A>G
  • NM_021069.6:c.942A>G
  • NP_001139146.1:p.Ile218Met
  • NP_001257700.1:p.Ile414Met
  • NP_001381174.1:p.Ile500Met
  • NP_001381175.1:p.Ile481Met
  • NP_001381176.1:p.Ile481Met
  • NP_001381177.1:p.Ile458Met
  • NP_001381178.1:p.Ile458Met
  • NP_001381179.1:p.Ile453Met
  • NP_001381180.1:p.Ile414Met
  • NP_001381181.1:p.Ile414Met
  • NP_001381182.1:p.Ile414Met
  • NP_001381183.1:p.Ile414Met
  • NP_001381184.1:p.Ile400Met
  • NP_001381185.1:p.Ile400Met
  • NP_001381186.1:p.Ile400Met
  • NP_001381187.1:p.Ile395Met
  • NP_001381188.1:p.Ile385Met
  • NP_001381189.1:p.Ile385Met
  • NP_001381190.1:p.Ile383Met
  • NP_001381191.1:p.Ile377Met
  • NP_001381192.1:p.Ile377Met
  • NP_001381193.1:p.Ile352Met
  • NP_001381194.1:p.Ile345Met
  • NP_001381195.1:p.Ile314Met
  • NP_001381196.1:p.Ile314Met
  • NP_001381197.1:p.Ile314Met
  • NP_001381199.1:p.Ile314Met
  • NP_001381200.1:p.Ile314Met
  • NP_001381201.1:p.Ile314Met
  • NP_001381202.1:p.Ile305Met
  • NP_001381203.1:p.Ile299Met
  • NP_001381204.1:p.Ile299Met
  • NP_001381206.1:p.Ile233Met
  • NP_001382136.1:p.Ile514Met
  • NP_066547.1:p.Ile314Met
  • NC_000004.11:g.186545629T>C
  • NM_021069.4:c.942A>G
...more
Protein change:
I218M
Molecular consequence:
  • NM_001145670.2:c.1135+2357A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145671.3:c.1396+2357A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145672.2:c.1186+2357A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145673.3:c.1675+2357A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145675.3:c.679+2357A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394276.1:c.2392+2357A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003603.7:c.1201+2357A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145674.3:c.654A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270771.3:c.1242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394245.1:c.1500A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394246.1:c.1443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394247.1:c.1443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394248.1:c.1374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394249.1:c.1374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394250.1:c.1359A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394251.1:c.1242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394252.1:c.1242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394253.1:c.1242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394254.1:c.1242A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394255.1:c.1200A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394256.1:c.1200A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394257.1:c.1200A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394258.1:c.1185A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394259.1:c.1155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394260.1:c.1155A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394261.1:c.1149A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394262.1:c.1131A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394263.1:c.1131A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394264.1:c.1056A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394265.1:c.1035A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394266.1:c.942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394267.1:c.942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394268.1:c.942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394270.1:c.942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394271.1:c.942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394272.1:c.942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394273.1:c.915A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394274.1:c.897A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394275.1:c.897A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394277.1:c.699A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395207.1:c.1542A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021069.6:c.942A>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
SCV003671127Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(Dec 1, 2022)
germlineclinical testing

Citation Link

Last Updated: Nov 24, 2024

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