NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 5, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003176489.2
Allele description [Variation Report for NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)]
NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)
- Genes:
- LOC106736614:RET 5' regulatory region [Gene]
RET:ret proto-oncogene [Gene - OMIM - HGNC] - Variant type:
- Duplication
- Cytogenetic location:
- 10q11.21
- Genomic location:
- Preferred name:
- NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)
- HGVS:
- NC_000010.11:g.43077260_43077265dup
- NG_007489.1:g.5192_5197dup
- NG_045003.1:g.4447_4452dup
- NM_000323.2:c.2_7dup
- NM_001406743.1:c.2_7dup
- NM_001406744.1:c.2_7dup
- NM_001406759.1:c.2_7dup
- NM_001406760.1:c.2_7dup
- NM_001406761.1:c.2_7dup
- NM_001406762.1:c.2_7dup
- NM_001406763.1:c.2_7dup
- NM_001406764.1:c.2_7dup
- NM_001406765.1:c.2_7dup
- NM_001406766.1:c.2_7dup
- NM_001406767.1:c.2_7dup
- NM_001406768.1:c.2_7dup
- NM_001406769.1:c.2_7dup
- NM_001406770.1:c.2_7dup
- NM_001406771.1:c.2_7dup
- NM_001406772.1:c.2_7dup
- NM_001406773.1:c.2_7dup
- NM_001406774.1:c.2_7dup
- NM_001406775.1:c.2_7dup
- NM_001406776.1:c.2_7dup
- NM_001406777.1:c.2_7dup
- NM_001406778.1:c.2_7dup
- NM_001406779.1:c.2_7dup
- NM_001406780.1:c.2_7dup
- NM_001406781.1:c.2_7dup
- NM_001406782.1:c.2_7dup
- NM_001406783.1:c.2_7dup
- NM_001406784.1:c.2_7dup
- NM_001406785.1:c.2_7dup
- NM_001406786.1:c.2_7dup
- NM_001406787.1:c.2_7dup
- NM_001406788.1:c.2_7dup
- NM_001406789.1:c.2_7dup
- NM_001406790.1:c.2_7dup
- NM_001406791.1:c.2_7dup
- NM_001406792.1:c.2_7dup
- NM_001406793.1:c.2_7dup
- NM_001406794.1:c.2_7dup
- NM_020629.2:c.2_7dup
- NM_020630.7:c.2_7dup
- NM_020975.6:c.2_7dupMANE SELECT
- NP_000314.1:p.Ala2_Lys3insMetAla
- NP_001393672.1:p.Ala2_Lys3insMetAla
- NP_001393673.1:p.Ala2_Lys3insMetAla
- NP_001393688.1:p.Ala2_Lys3insMetAla
- NP_001393689.1:p.Ala2_Lys3insMetAla
- NP_001393690.1:p.Ala2_Lys3insMetAla
- NP_001393691.1:p.Ala2_Lys3insMetAla
- NP_001393692.1:p.Ala2_Lys3insMetAla
- NP_001393693.1:p.Ala2_Lys3insMetAla
- NP_001393694.1:p.Ala2_Lys3insMetAla
- NP_001393695.1:p.Ala2_Lys3insMetAla
- NP_001393696.1:p.Ala2_Lys3insMetAla
- NP_001393697.1:p.Ala2_Lys3insMetAla
- NP_001393698.1:p.Ala2_Lys3insMetAla
- NP_001393699.1:p.Ala2_Lys3insMetAla
- NP_001393700.1:p.Ala2_Lys3insMetAla
- NP_001393701.1:p.Ala2_Lys3insMetAla
- NP_001393702.1:p.Ala2_Lys3insMetAla
- NP_001393703.1:p.Ala2_Lys3insMetAla
- NP_001393704.1:p.Ala2_Lys3insMetAla
- NP_001393705.1:p.Ala2_Lys3insMetAla
- NP_001393706.1:p.Ala2_Lys3insMetAla
- NP_001393707.1:p.Ala2_Lys3insMetAla
- NP_001393708.1:p.Ala2_Lys3insMetAla
- NP_001393709.1:p.Ala2_Lys3insMetAla
- NP_001393710.1:p.Ala2_Lys3insMetAla
- NP_001393711.1:p.Ala2_Lys3insMetAla
- NP_001393712.1:p.Ala2_Lys3insMetAla
- NP_001393713.1:p.Ala2_Lys3insMetAla
- NP_001393714.1:p.Ala2_Lys3insMetAla
- NP_001393715.1:p.Ala2_Lys3insMetAla
- NP_001393716.1:p.Ala2_Lys3insMetAla
- NP_001393717.1:p.Ala2_Lys3insMetAla
- NP_001393718.1:p.Ala2_Lys3insMetAla
- NP_001393719.1:p.Ala2_Lys3insMetAla
- NP_001393720.1:p.Ala2_Lys3insMetAla
- NP_001393721.1:p.Ala2_Lys3insMetAla
- NP_001393722.1:p.Ala2_Lys3insMetAla
- NP_001393723.1:p.Ala2_Lys3insMetAla
- NP_065680.1:p.Ala2_Lys3insMetAla
- NP_065681.1:p.Ala2_Lys3insMetAla
- NP_065681.1:p.Ala2_Lys3insMetAla
- NP_066124.1:p.Ala2_Lys3insMetAla
- NP_066124.1:p.Ala2_Lys3insMetAla
- LRG_518t1:c.2_7dup
- LRG_518t2:c.2_7dup
- LRG_518:g.5192_5197dup
- LRG_518p1:p.Ala2_Lys3insMetAla
- LRG_518p2:p.Ala2_Lys3insMetAla
- NC_000010.10:g.43572708_43572713dup
- NM_020630.4:c.2_7dup
- NM_020975.4:c.2_7dup
- NM_020975.4:c.2_7dupTGGCGA
This HGVS expression did not pass validation- Molecular consequence:
- NM_000323.2:c.2_7dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_020629.2:c.2_7dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001406743.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406744.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406759.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406760.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406761.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406762.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406763.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406764.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406765.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406766.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406767.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406768.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406769.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406770.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406771.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406772.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406773.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406774.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406775.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406776.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406777.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406778.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406779.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406780.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406781.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406782.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406783.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406784.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406785.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406786.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406787.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406788.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406789.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406790.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406791.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406792.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406793.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406794.1:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_020630.7:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_020975.6:c.2_7dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_001406743.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406744.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406759.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406760.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406761.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406762.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406763.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406764.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406765.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406766.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406767.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406768.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406769.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406770.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406771.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406772.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406773.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406774.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406775.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406776.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406777.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406778.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406779.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406780.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406781.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406782.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406783.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406784.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406785.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406786.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406787.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406788.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406789.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406790.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406791.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406792.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406793.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_001406794.1:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_020630.7:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
- NM_020975.6:c.2_7dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
UI-CF-EC1-ach-f-08-0-UI.s1 UI-CF-EC1 Homo sapiens cDNA clone UI-CF-EC1-ach-f-08-...
UI-CF-EC1-ach-f-08-0-UI.s1 UI-CF-EC1 Homo sapiens cDNA clone UI-CF-EC1-ach-f-08-0-UI 3', mRNA sequencegi|19591418|gnl|dbEST|11792125|gb|B 27.1|Nucleotide
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV003858483 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Jan 5, 2023) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV003858483.3
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not 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.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Jun 2, 2024