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NM_001166108.2(PALLD):c.2298G>A (p.Glu766=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 25, 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:
RCV004067321.1

Allele description [Variation Report for NM_001166108.2(PALLD):c.2298G>A (p.Glu766=)]

NM_001166108.2(PALLD):c.2298G>A (p.Glu766=)

Genes:
CBR4:carbonyl reductase 4 [Gene - OMIM - HGNC]
PALLD:palladin, cytoskeletal associated protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.3
Genomic location:
Preferred name:
NM_001166108.2(PALLD):c.2298G>A (p.Glu766=)
HGVS:
  • NC_000004.12:g.168898540G>A
  • NG_013376.1:g.406475G>A
  • NM_001166108.2:c.2298G>AMANE SELECT
  • NM_001166109.2:c.1101G>A
  • NM_001166110.2:c.786G>A
  • NM_001367567.1:c.126G>A
  • NM_001367568.1:c.177G>A
  • NM_001367569.1:c.126G>A
  • NM_001367570.1:c.177G>A
  • NM_016081.4:c.2247G>A
  • NP_001159580.1:p.Glu766=
  • NP_001159581.1:p.Glu367=
  • NP_001159582.1:p.Glu262=
  • NP_001354496.1:p.Glu42=
  • NP_001354497.1:p.Glu59=
  • NP_001354498.1:p.Glu42=
  • NP_001354499.1:p.Glu59=
  • NP_057165.3:p.Glu749=
  • NC_000004.11:g.169819691G>A
  • NM_016081.3:c.2247G>A
Molecular consequence:
  • NM_001166108.2:c.2298G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166109.2:c.1101G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166110.2:c.786G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367567.1:c.126G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367568.1:c.177G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367569.1:c.126G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001367570.1:c.177G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016081.4:c.2247G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV003913670Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 25, 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, SCV003913670.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024