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NM_002579.3(PALM):c.446A>T (p.Lys149Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 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:
RCV004081210.1

Allele description [Variation Report for NM_002579.3(PALM):c.446A>T (p.Lys149Met)]

NM_002579.3(PALM):c.446A>T (p.Lys149Met)

Gene:
PALM:paralemmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_002579.3(PALM):c.446A>T (p.Lys149Met)
HGVS:
  • NC_000019.10:g.736022A>T
  • NM_001040134.2:c.446A>T
  • NM_002579.2:c.446A>T
  • NM_002579.3:c.446A>TMANE SELECT
  • NP_001035224.1:p.Lys149Met
  • NP_002570.2:p.Lys149Met
  • NC_000019.9:g.736022A>T
Protein change:
K149M
Molecular consequence:
  • NM_001040134.2:c.446A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002579.3:c.446A>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
SCV003530639Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 22, 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, SCV003530639.2

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

Description

The c.446A>T (p.K149M) alteration is located in exon 7 (coding exon 7) of the PALM gene. This alteration results from a A to T substitution at nucleotide position 446, causing the lysine (K) at amino acid position 149 to be replaced by a methionine (M). 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